peer-reviewed papers in professional journals 1. 161(5 ... · peer-reviewed papers in professional...

List of Publications

Anthony S. Luder 015573801 December 2014

Peer-Reviewed Papers in Professional Journals

Basic Research

1. Luder AS, Greene C. Maternal phenylketonuria: Implications for medical practice in

the United States. American Journal of Obstetrics and Gynecology 1989(Nov);

161(5):1102- 1105

IF: 3.46, Rank 8/75 (Obstetrics and Gynaecology), Contribution A,C,D

2. Parker WD, Boyson SJ, Luder AS, Parks J. Evidence for a defect in NADH:ubiquinone

oxidoreductase (complex I) in Huntington's disease. Neurology 1990(Aug); 40:1231-

1233

IF: 8.017, Rank 4/185 (Clinical Neurology), Contribution A,B,C,D

3. Luder AS, Parks J, Frerman F, Parker WD. Inactivation of alpha-ketoglutarate

dehydrogenase by valproic acid and valproic acid metabolites: possible mechanism of

anti-convulsant and toxic actions. Journal of Clinical Investigation 1990(Nov);

86:1574-1581

IF: 14.152, Rank 3/106 (Medicine, Research and Experimental), Contribution A,B,C,D

4. Blom J, Davidson A, Kinkelstein JD, Luder AS, Bernadini I, Martin JJ, Tangerman A,

Trijbels FMF, Mudd SH, Goodman SI, Gahl WA. Persistent hypermethioninemia with

dominant inheritance. Journal of Inherited Metabolic Disease 1992; 15(2):188-197

IF: 3.088, Rank 36/116 (Endocrinology and Metabolism), 46/156 (Genetics and

Heredity) Contribution A,B,C,D

5. Mandel H, Espeel M, Roels F, Sofer N, Luder AS, Iancu TC, Aizin A, Berant M,

Wanders RJ Schutgens RB. A new type of peroxisomal disorder with variable

expression in liver and fibroblasts. Journal of Pediatrics 1994(Oct); 125(4):549-555

IF: 4.042, Rank 3/107 (Pediatrics), Contribution B,C,D

6. Luder AS, Barash V. Complex I deficiency with diabetes, Fanconi syndrome and

mtDNA deletion. Journal of Inherited Metabolic Disease 1994; 17(3):298-300



7. Tamary H, Fromovich Y, Shalmon L, Reich Z, Dym O, Lamir N, Brenner B, Paz M, Luder

AS. Ala244Val is a common, probably ancient mutation causing factor VII deficiency

in Moroccan and Iranian Jews. Thrombosis and Haemostasis 1996(Sep); 76(3):283-

291

IF: 4.7012, Rank 9/66 (Peripheral Vascular Disease), 13/65 (Hematology),

Contribution A,C,D

8. Bercovich D, Regev Z, Ratz T, Luder A, Plotsky Y, Gruenbaum Y. Quantitative ratio of

primer pairs and annealing temperature affecting PCR products in duplex

amplification. Biotechniques. 1999 Oct;27(4):762-4, 766-8, 770.

IF: 2.55, Rank 33/71 (Biochemical Research Methods), Contribution A,D

9. Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari

R. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic

heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and

results of nerve conduction studies. American Journal of Medical Genetics

2000(Jun); 92(5): 353-60

IF: 2.505, Rank 77/156 (Genetics and Heredity), Contribution A,B,D

10. Barbara Schenk, Timo Imbach, Christian G. Frank, Claudia E. Grubenmann, Gerald V.

Raymond, H. Hurvitz, A. Raas-Rotschild, Anthony S. Luder, Jaak Jaeken, Eric G.

Berger, Gert Matthijs, Thierry Hennet and Markus Aebi. MPDU1 mutations underlie a

novel human congenital disorder of glycosylation, designated type If. Journal of

Clinical Investigation 2001(December) 108(11); 1687-1695

IF: 14.152, Rank 3/106 (Medicine, Research and Experimental), Contribution A,B,C,D

11. Amirav I, Balanov I, Gorenberg M, Luder AS, Newhouse MT, Groshar D. ß-agonist

aerosol distribution in respiratory syncytial virus bronchiolitis in infants. Journal

Nuclear Medicine 2002 43; 487-491

IF: 7.022, Rank 1/111 (Radiology, Nuclear Medicine & Medical Imaging),

Contribution A,B,C,D

12. Amirav I, Balanov I, Gorenberg M, Groshar D, Luder AS. Nebuliser hood compared to

mask in wheezy infants: aerosol therapy without tears! Archives of Disease in

Childhood, August 2003 88(8); 719-723

IF: 2.616, Rank 16/107 (Pediatrics), Contribution A,B,C,D

13. Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, Amirav I, Luder

AS, Bisgaard H, Gardiner RM, Chung EM, Mitchison HM. Loci for primary ciliary

dyskinesia map to 16p 12.1-12.2 and 15q 13.1-15.1 in Faroe islands and Israeli Druze

isolates. Journal of Medical Genetics 2004 41; 233-240

IF: 7.037, Rank 16/156 (Genetics and Heredity), Contribution A,C,D

14. Assy N, Hussein O, Abdallah Khalil, Anthony Luder, Sergio Szvalb, Melia Paizi, and

Gadi Spira. The beneficial effect of aspirin and enoxaparin on fibrosis progression and

regenerative activity in a rat model of cirrhosis. Digestive Diseases and Sciences 2007

May; 52(5):1187-93.

IF: 2.060, Rank 40/71 (Gastroenterology and Hepatology), Contribution A,D

15. A.S. Luder, H. Mandel, M. Khayat, I. Gurevich, P. Frankel, J. Rivlin, Tsippora C. Falik-

Zaccai. Chronic Lung Disease and Cystic Fibrosis Phenotype in Prolidase Deficiency; A

Newly Recognized Association. Journal of Pediatrics 2007;150:656-8


16. Hussein OA, Gefen Y, Zidan JM, Karochero EY, Luder AS, Assy NN, Sror ES, Aviram MY.

LDL oxidation is associated with increased blood hemoglobin A1c levels in diabetic

patients. Clinica Chimica Acta. 2007 Feb; 377(1-2):114-8.

IF: 2.388, Rank 6/30 (Medical Laboratory Technology), Contribution A,D

17. Dov Hershkovitz, Hannah Mandel, Akemi Ishida-Yamamoto, Ilana Chefetz, Bayan

Hino, Anthony Luder, Margarita Indelman, Reuven Bergman, Eli Sprecher. Defective

Lamellar Granule Secretion in Arthrogryposis, Renal dysfunction and Cholestasis

(ARC) syndrome caused by a mutation in VPS33B. Archives of Dermatology 2008

Mar;144(3):334-40

IF: 4.321, Rank 5/54 (Dermatology), Contribution A,B,D

18. AS Luder, SM Tanner, A. de la Chapelle, JH Walter. Amnionless (AMN) Mutations in

Imerslund-Gräsbeck Syndrome May be Associated With Disturbed Vitamin B12

Transport into the CNS. Journal of Inherited Metabolic Disease. 2008 February

31:129;



19. Amirav I., Luder AS., Kruger N., Borovitch Y., Babai I., Miron D., Zuker M., Tal G.,

Mandelberg A. A Double-Blind Placebo Controlled Randomised Trial of Montelukast

in Acute Respiratory Syncytial Virus Bronchiolitis. Pediatrics 2008 Dec 122;e1249-

e1255


20. D. Magen, C. Georgopolous, P. Bross, D. Ang, Y. Segev, A. Nemirovski, E. Shahar, S.

Ravid, A. Luder, B. Heno, R. Gershoni-Baruch, K. Skorecki, H. Mandel. Mitochondrial

Hsp60 Chaperonopathy Causing a Severe Autosomal Recessive Neurodegenerative

Disorder Associated with Brain Hypomyelination and Leukodystrophy. American

Journal of Human Genetics. 2008 83(1):30 – 42

IF: 11.68, Rank 8/156 (Genetics and Heredity), Contribution B,D

21. T. Falik-Zaccai, M. Khyat, A. Luder, P. Savoy, P. Frenkel, Z. Israel, R. Brik, R. Gershoni

Baruch, P. Hechtmann, H. Mandel. A broad spectrum of developmental delay in a

large cohort of prolidase deficiency patients demonstrates marked interfamilial and

intrafamilial phenotypic variability. American Journal of Medical Genetics B

Neuropsychiatr Genet. 2010;153B(1):46-56

IF: 4.156, Rank 23/126 (Psychiatry), Rank 36/156 (Genetics and Heredity)

Contribution A,B,D

22. Newhouse M, Luder A, Chalamish A, Raviv D, Kimmel R, Amirav I. Evidence Based

Design Of Face Masks For Children Using Computerized 3d Face Analysis. Am J Respir

Crit Care Med 2012;185:A5628

23. Israel Amirav, Anthony Luder, Aidah Chleechel, Michael T Newhouse, Miguel

Gorenberg. Lung aerosol deposition in suckling infants. Archives of Disease in

Childhood 2012; 97:497-501

IF: 2.878, Rank 16/106 (Pediatrics), Contribution C,D

24. Israel Amirav, Anthony S. Luder, Asaf Halamish, Dan Raviv, Ron Kimmel, Dan

Waisman, Michael T. Newhouse. Design of aerosol face masks for children using

computerized 3D face analysis. Journal of Aerosol Medicine and Pulmonary Drug

Delivery 2013; 26:1-7

IF: 3.048, Rank 15/50 (Respiratory Medicine), Contribution B,D

25. Israel Amirav, Michael T Newhouse, Anthony Luder, Asaf Halamish, Hamza Omar,

Miguel Gorenberg. Feasibility of aerosol drug delivery to sleeping infants: a

prospective observational study. BMJ Open 2014; 4:e004124 doi:10.1136/bmjopen-

2013-004124

IF: 17.215, Rank 4/154 (General medicine), Contribution A,D

26. Amirav I, Luder AS, Halamish A, Marzuk C, Daitzchman M, Newhouse MT. Computerized

Dead-Space Volume Measurement of Face Masks Applied to Simulated Faces. Respir

Care. 2015 May 5. pii: respcare.03813.

IF: 2.034, Rank 32/54 (Respiratory Medicine)

Clinical Research

1. Luder AS, Holland FJ, Costigan DC, Jenner MR, Wielgosz G, Fazekas AT. Intra-nasal

and sub-cutaneous treatment of central precocious puberty in both sexes with a

long acting analogue of luteinizing hormone-releasing hormone. Journal of Clinical

Endocrinology and Metabolism 1984(Jun); 58(6):966-972

IF: 6.495, Rank 13/116 (Endocrinology and Metabolism), Contribution A,B,C,D

2. Luder AS, Davidson A, Goodman SI, Greene C. Transient non-ketotic hyperglycinemia

in infancy. Journal of Pediatrics 1989(Jun); 114(6):1013-1015


3. Luder AS, Yannicelli S, Greene C. Normal outcome on unrestricted diet after severe

infantile propionic acidemia. Journal of Inherited Metabolic Disease 1989(Dec);

12:307-311



4. 4. Davidson-Mundt A, Luder AS, Greene C. Hyperuricemia in medium-chain acyl-

coenzyme A dehydrogenase deficiency. Journal of Pediatrics 1992(Mar);

120(3):444-446


5. Zelnik N, Luder AS, Elpeleg ON, Gross TV, Amir N, Hemli JA, Fattal A, Harel S.

Protracted clinical course for patients with Canavan disease. Developmental

Medicine and Child Neurology 1993(Apr); 35(4):355-358

IF: 3.264, Rank 6/107 (Pediatrics), 52/185 (Clinical Neurology), Contribution A,B,C,D

6. Reis S, Sheffer RN, Merin S, Luder AS, Bach G. Mucolipidosis type IV: a mild form

with late onset. American Journal of Medical Genetics Part A 1993(Sep); 47(3):392-

394

IF: 2.505, Rank 77/156 (Genetics and Heredity), Contribution A,B,C,D

7. Segal-Kuperschmit D, Cozacov C, Luder AS. Idiopathic external hydrocephalus.

Harefuah 1995(Feb); 128(3):150-152


8. Nir-Paz R, Luder AS, Cozacov C, Shahin R. Saphenous neuropathy in adolescence.

Pediatrics 1999(Jan); 103(1):161-163


9. Koren A, Segal-Kupershmit D, Zalman L, Levin C, Abu Hana M, Palmor H, Luder AS,

Attias D. The effect of hydroxyurea in sickle cell anemia; clinical trial in children and

teenagers. Pediatric Hematology Oncology 1999(Jun); 221-232


10. Viner Y, Segal D, Hashkes P, Luder AS. Severe immune hemolysis during ceftriaxone

therapy in Sickle-Cell Anemia Pediatric Infectious Disease Journal 2000 (Jan); 19(1):

83-5


11. Amirav I, Epstien Y, Luder AS. Physiological and practical evaluation of a

biological/chemical protective device for infants. Military Medicine 2000 (Sep)

165(9): 663-6

IF: 0.766, Rank 3/107 (Medicine General and Internal), Contribution B,C,D

12. Luder A. The morbidity and mortality of non-medicine in children. International

Journal of Adolescent Health and Medicine 12; Dec: 2000: 295-306

No longer in print. Contribution B,C,D

13. Dali-Gotfried O, Luder AS. Psychiatric presentation of thyroid disease in

adolescence. International Journal of Adolescent Health and Medicine 12;

Dec:2000: 323-330

No longer in print. Contribution C,D

14. Mandel H, Abeling N, Gutman A, Berant M, Scholten EG, Sheiman C, Luder A, van

Gennip AH. Prolidase deficiency among an Israeli population: prenatal diagnosis in a

genetic disorder with uncertain prognosis. Prenatal Diagnosis 2000; 20:927-929

IF: 2.152, Rank 20/75 (Obstetrics and Gynecology), Contribution A,D

15. Viner Y, Miron D, Yakubov R, Gotfried E, Segal D, Luder A. Neonatal Shigellosis. Israel

Medical Association Journal (IMAJ) 2001(December); 3:964-966

IF: 0.953, Rank 84/151 (Medicine General and Internal), Contribution A,B,C,D

16. Berkovitch M, J. Press, M. Bulkostein, L. Even, J. Barash, R. Brick, D. Tasher, R.

Marom, A.S. Luder, Y. Hecht, M. Rubinstein, M. Mosleh, S. Ben-Shacher, R. Talmor,

A. Zviel, A. Kiro, L. Piglansky, V. Pinsk, Y. Uziel. Pre-Marketing Surveillance of Oral

Ibuprofen Solution in Febrile Children. Clinical Drug Investigation 2001; 21(12):821-

825

IF: 1.622, Rank 167/249 (Pharmacology and Pharmacy), Contribution B,C,D

17. Miron D, Raz R, Luder A. Congenital Toxoplasmosis - The Case for Neonatal

Screening. Israel Medical Association Journal (IMAJ) 2002 (February); 4:119-122

IF: 0.953, Rank 84/151 (Medicine General and Internal), Contribution A,B,D

18. Miron D, Luder A, Horovitz Y, Izkovitz A, Shizgreen I, David EB, Ohnona FS,

Schlesinger Y. Acute human parvovirus B-19 infection in hospitalized children: A

serologic and molecular survey. Pediatric Infectious Disease Journal 2006

Oct;25(10):898-901.


19. I. Amirav, R. Yacobov, AS Luder. Formoterol Turbuhaler Is as Effective as Salbutamol

Diskus in Relieving Adenosine-Induced Bronchoconstriction In Children. Journal of

Aerosol Medicine and Pulmonary Drug Delivery 2007;20:1-6

IF: 2.148, Rank 26/46 (Respiratory System), Contribution A,B,C,D

20. Miron D, Horovitz Y, Luder A, Ohnona FS, Schelisinger Y. Age related IgG

seroprevalence of human Parvovirus B-19 infection in Israeli children. Israel Medical

Association Journal (IMAJ) 2010;12:277-279


21. Butbul-Aviel Y, Mandel H, Avitan-Hersh E, Bergman R, Eshach-Adiv O, Luder A, Brik

R. Prolidase deficiency associated with systemic lupus erythematosus (SLE) : single

site experience and literature review. Pediatric Rheumatology 2012;10:18

IF: 1.79, Rank , Contribution A

22. P. Gilbey, S. Bretler, Y. Avraham, A. Sharabi-Nov, A. Luder. Acupuncture for post-

tonsillectomy pain in children: a randomized, controlled study. Pediatric Anesthesia

2015 Jun;25(6):603-9.

IF: 1.8, Rank, Contribution A,B,C,D

Collaborator:

1. A reach-out system for video microscopy analysis of ciliary motions aiding PCD

diagnosis

Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C. Collaborators Revital

Abitbul, Soliman Alkrinawi, Micha Aviram,Avi Avital, Dorit Baso, Lea Bentur, Hannah

Blau, Malena Cohen-Cymberknoh5, Husein Dabbah, Nael Elias, Arnon Elizur, Shmuel

Goldberg, Avigdor Hevroni,Eytan Kerem, Moran Lavie, Galit Livnat, Anthony Luder,

Avigdor Mandelberg, Michael Paz, Elie Picard, Joseph Rivlin, Moshe Rotschild, David

Shoseyov, Ruth Soferman, Chaim Springer, Johanna Raidt. BMC Research Notes 2015;

8:71

Case Reports

1. Luder AS, Cohen SL, Fisher C. Nephrotic syndrome and renal tubular

dysfunction. Postgraduate Medical Journal 1980(Apr); 56(654):282-287


2. Lorber A, Luder AS. Very early presentation of Pompe's disease and its

cross sectional echocardiographic features. International Journal of

Cardiology 1987(Sep); 16(3):311-314

IF: 6.802, Rank 3/107 (Cardiac & Cardiovascular Systems), Contribution A,B,C,D

3. Lorber A, Luder AS, Dembo L. Acute bacterial endocarditis in early

infancy. International Journal of Cardiology 1987 Dec;17(3):343-5.

IF: 6.802, Rank 3/107 (Cardiac & Cardiovascular Systems), Contribution A,B,C,D

4. Luder AS, Davidson AJ, Goodman SI, Greene CL. Transient non-ketotic

hyperglycinemia in neonates. American Journal of Human Genetics

1988(Sep); 43(3):A13


5. Greene CL, Yannicelli S, Luder AS. Infantile severe propionic acidemia

with normal outcome on unrestricted diet. American Journal of Human

Genetics 1988(Sep); 43(3):A7


6. Luder AS, Naphtali V, Ben-Porat E, Lahat N. Still's disease associated

with adenovirus infection and defect in adenovirus directed natural

killing. Annals of the Rheumatic Diseases 1989; 48:781-786

IF: 9.082, Rank 1/29 (Rheumatology), Contribution A,B,C,D

7. Hardoff R, Luder AS, Lorber A, Dembo L. Early detection of infantile

endocarditis by gallium-67scintigraphy. European Journal of Nuclear

Medicine and Molecular Imaging 1989; 15:219-221

IF: 5.036, Rank 6/111 (Radiology, Nuclear Medicine and Medical Imaging),


8. Segal-Kuperschmit D, Dali-Gotfried O, Luder AS. Water intoxication as a

result of desmopressin overdose. Harefuah 1997; 132:463-465

Contribution B,C,D

9. Luder AS, Segal D, Saba N. Hypoxia and chest pain due to acute

constipation: An under diagnosed condition? Pediatric Pulmonology

1998(Sep); 26(3):222-223


10. Luder AS, Mamet R, Farbstein I, Schoenfeld N. Awareness is the Name of the

Game: Clinical and Biochemical Evaluation of a Case of a Girl Diagnosed With

Acute Intermittent Porphyria Associated With Autism. Cellular and Molecular

Biology 2009(Feb);55:16-19

IF: 0.833, Rank 165/177 (Cell Biology), Contribution A,C,D

11. Gilbey P, Amirav I, Luder A. Vallecular Cyst: A rare cause of failure to thrive

without respiratory distress in an infant The Journal of Pediatrics June 2011

(eprint)


12. Gilbey P, Bretler S, Even-Tov E, Luder A. Accidental out-of-hospital delivery

complicated by acute neonatal parotitis: Case report and a review of the

literature. International Journal of Pediatric Otorhinolaryngology Extra 2011

DOI:10.1016/j.pedex.2011.05.001

IF: 1.067, Rank 67/107 (Pediatrics) 21/41 (Otorhinolaryngology), Contribution

B,C,D

Reviews

1. Luder A, Klein O, Gotfried O, Eshel B, Carbohydrate-deficient Glycoprotein

Syndromes - A New Group of Multi-System Genetic Disorders. Harefuah

1999(Nov 15); 137(10):486-490


2. Dali-Gotfried O, Viner Y Luder AS. The controversy surrounding Paracetomol

therapy in childhood. Harefuah 2000;138: 997-1000


3. Viner Y, Dali-Gotfrid O, Luder A, Hashkes P. Ibuprofen – new era of an old drug.

Harefuah; 140(9); Sep:2001: 868-871

Contribution A, B,C,D

4. Luder AS. Complementary and alternative medicine. Israel Medical Association

Journal (IMAJ). 2004 Apr;6(4):255-6.


5. Amirav I, Luder A, Viner Y, Finkel M. Decriminalization of Cannabis – potential

risks for children? Acta Paediatrica 2010;100:618-620


Invited Editorials

1. Evidence-Based Clinical Practice Guidelines – What is the Evidence? Israel Medical

Association Journal (IMAJ) 2011;13:689-691


Letters

1. A.S. Luder. Alternative forms of medicine (letter). Israel Medical Association

Journal (IMAJ) 2007;9:494


Books

1. Subcutaneous and intra-nasal D-Ser (TBU)6-LHRH (Buserilin) in the

management of precocious puberty. Holland FJ, Fishman L, Luder AS,

Costigan DC, Jenner M, Wielgosz G, Fazekas A. Proceedings of the 7th

International Congress of Endocrinology, 1985, Elsevier Science

Publishers.

2. Israel Encyclopedia of Health 2003

1. Chapter on “Congenital Disorders of Glycosylation”

2. Chapter on “ Fraternal Twins”

3. Guidelines for the Diagnosis and Treatment of Acute Otitis Media. Spenser T.,

Miron D., Zohar S, Persiko M, Luder A. Joint Working Party of Kupat Holim Clalit

and Faculty of Medicine, Technion. Printings 2001 (twice), 2003

4. Chapters on: 1. Phenylketonuria 2. Syndromes in Paediatrics (Ministry of Health

Handbook for "Tipat Halav" Mother and Infant Clinics, והפעות התינוק בריאות

Dionon, Tel Aviv, 2011 pp 99-103, 107-110

Non-peer Reviewed Papers

1. Luder AS. Recent trends in the relationship between medicine and medical

marketing forces. International Journal of Medical Marketing; 2005 (April)

5(2):172-174


2. A. Luder. The 10th International Congress of Inborn Errors of Metabolism (ICIEM)

Makahuri Messe (Tokyo), Japan, September 2006. Pediatric Endocrinology

Reviews 2007 March;4(3):235-236

Contribution B,C,D

3. AS Luder. Immunizations in Israel-Present and Future Problems (Hebrew). Israel

Journal of Pediatrics 2007 December 62:9-12


4. Luder AS. RSV Bronchioloitis-Present and Future. Medical 2009; 25:61-63


5. Anthony Luder. Israel Society for Metabolic Diseases, Winter Meeting, Hadassah

Medical Centre , Ein Kerem, Jerusalem, Israel (December 7, 2011) Pediatric

Endocrinology Reviews (PER) Q Volume 9 Q No. 2 Q December 2011.

Contribution B,C,D

Citation Statistics

Total number of citations (Web of Science ISI Web of Knowledge): 707 (07-11)

4 most cited papers:

Parker WD, Boyson SJ, Luder AS, Parks J. Evidence for a defect in NADH:ubiquinone

oxidoreductase (complex I) in Huntington's disease. Neurology 1990;40:1231-1233 Citations

188

Luder AS, Holland FJ, Costigan DC, Jenner MR, Wielgosz G, Fazekas AT. Intra-nasal and sub-

cutaneous treatment of central precocious puberty in both sexes with a long acting analogue

of luteinizing hormone-releasing hormone. Journal of Clinical Endocrinology and

Metabolism 1984;58:966-972 Citations 76

Barbara Schenk, Timo Imbach, Christian G. Frank, Claudia E. Grubenmann, Gerald V.

Raymond, H. Hurvitz, A. Raas-Rotschild, Anthony S. Luder, Jaak Jaeken, Eric G. Berger, Gert

Matthijs, Thierry Hennet and Markus Aebi. MPDU1 mutations underlie a novel human

congenital disorder of glycosylation, designated type If. Journal of Clinical Investigation

2001;108:1687-1695 Citations 51

Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.

Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic

heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results

of nerve conduction studies. American Journal of Medical Genetics 2000;92:353-60

Citations 43

Conferences

A. Plenary - Invited talks

Conference Place and Date Title of Lecture/Poster

Society for Pediatric Research

1982, Washington DC., USA. A new LHRH analogue, D-Ser

(TBU)6-LHRH 1-9 EA10 (HOE

766) in central precocious

puberty: subcutaneous and

intra-nasal therapy in 6 girls

and 1 boy. (Pediatric Research

1983(Apr);17(4,2):166A. )

Israel Association for Pediatric

Neurology

1989, Jerusalem Therapeutic and toxic

mechanisms of Valproic Acid

Annul Harvey Levitt Symposium

on Inherited Disorders of

Metabolism

1990, Technion, Haifa Inherited Disorders of β-

oxidation of fats

6th International Congress of

Child Development Centers

1991 Nazareth Molecular genetics and

mental retardation

Israel Society for Metabolic

Disease

1998, Tel-Aviv Carbohydrate-deficient

glycoprotein syndromes

(Congenital Disorders of

Glycosylation CDG)

Israel Clinical Pediatrics Society 2000, Tel Aviv Infantile botulism

Israel Society for Metabolic

Disease, Ann Rappaport

Symposium on

Aminoacidopathies and

Development

2002, Faculty of Medicine, Technion,

Haifa

Cystic Fibrosis and Prolidase

deficiency

Annual Conference on Paediatric

Updates, Clalit Health Services

2009, Tiberius Recent developments in the

genetics of congenital heart

disease

Israel Medical Association

International Forum Conference

2009, Tel Aviv Progress, pre-natal selection

and the ethical consumer

Association of Clinical Research

Professionals (ACRP) 5th Annual

Conference

2010, Airport City Research ethics and

regulatory committees-future

perspectives

1st National Conference Israel

Branch of Orphanet International

2011, Schneider Children’s Hospital,

Petah Tiqwa

Orphan drugs – Who wishes

to adopt them?

National course on neurological

aspects inherited metabolic

2011, Asaf Harofe Hospital Metabolic investigation of

acute neurological disease in

disease childhood

International Society for

Pharmacoeconomics and

Outcomes Research ISPOR 4th

Annual Congress

2011, Herzliya Orphan diseases and orphan

drugs

Association of Pharmacists in

Israel, Ministry of Health

2011, Eilat Orphan diseases and orphan

drugs

B. Oral Presentations and Posters

Conference Place, Date, Speaker (presenter) Title of Lecture/Poster

Society for Inherited Metabolic

Disease SIMD

1988 Asilomar, California, USA.

A.S.Luder

Transient non-ketotic

hyperglycinemia in neonates

American Society of Human

Genetics

1988 New Orleans, Louisiana, USA.

A.S.Luder

Infantile severe propionic

acidemia

Israel Society for Human

Genetics

1989 Jerusalem

A.S.Luder

1. Kinetically abnormal

lipoamide

dehydrogenase and

lactic acidosis

2. Use of platelets in the

investigation of

mitochondrial

metabolism


Disease SIMD

1989 Orlando, Florida, USA.

A.S.Luder

1. Inactivation of alpha-

ketoglutarate

dehydrogenase by

valproic acid (Prize for

Best Fellow Research)

2. Vertical transmission

of lactic acidosis;

phenotypes and

genetic implications

10th David Smith Meeting on

Birth Defects and Morphogenesis

1989 Madrid, Spain

Prof. C. Greene

Lactic acidosis and Williams

phenotype. (Published in

Haywood Journal of

Dysmorphology)

American Association of

Neurology

1990 Miami, Florida

A.S.Luder

Complex I abnormalities in

Huntington disease


Disease, SIMD

1991 Santa Fe, New Mexico, USA

A.S.Luder

Bicycle ergometry in complex

I deficiency

Society for the Study of Inherited 1994 Manchester, UK. Fanconi syndrome, diabetes,

Errors of Metabolism SSIEM A.S.Luder complex I deficiency and

mtDNA deletion

Israel Association for Clinical

Paediatrics

1995 Tel-Aviv

A.S.Luder

Risk factors in unexplained

irritability in infancy

Israel Haematology and Oncology

Association

2002 Tel-Aviv

A.S.Luder

Long-term use of hydroxyurea

and follow-up in the

management of Sickle-Cell

anaemia and Sickle-

thalassemia

2nd International Congress on

Paediatrics in the Community

2000 Jerusalem

A.S.Luder

1. The morbidity and

mortality of non-

medical treatment of

children

2. Consensus guidelines

for the diagnosis and

treatment of acute

otitis media in

children

“Europaediatrics 2000” (Union of

National European Paediatric

Societies, Confederation of

European Specialists in

Paediatrics)

2000 Rome, Italy

A.S.Luder

1. Epidemiology and risk

factors for

unexplained extreme

irritability in infancy

2. Studies in the

Imerslund-Gräsbeck

syndrome, evidence

for a blood-brain

barrier for vitamin

B12

4th International Congress of

Paediatric Pulmonology

2000 Nice, France

Prof. I. Amirav

The use of a hood interface

for the delivery of nebulised

drugs in infancy. Winner of

International Prize for

Outstanding Research).

12th Congress European Society

for Paediatric Infectious Disease

ESPID

2001 Istanbul, Turkey

Prof. D. Miron

Neonatal Shigellosis

Society for the Study of Inborn

Errors of Metabolism SSIEM

2001 Prague, Czech Republic

A.S.Luder

Dominant Inheritance of

Complex IV Deficiency with

Psychiatric Presentation

9th International Congress on

Metabolism ICM

2003 Brisbane, Australia

A.S.Luder

Oral presentation: Prolidase

deficiency and chronic lung

disease in childhood.

Prolidase deficiency causes

chronic lung disease and CF.

Journal of Inherited Metabolic

Disease; 2003 (September)

26(Supplement 2): 67

Meeting on Lipid Metabolism 2004 Technion, Haifa

Dr. H. Osama

The contribution of LDL

Tendency to Peroxidation to

Plasma Hemoglobin A1C Level

in Diabetic Patients

European Society for Paediatric

Infectious Disease ESPID

2005 Valencia, Spain

A.S.Luder

Megadose methylprednisone

treatment of acute retinal

necrosis due to Varicella with

good prognosis

10th International Congress on

Inborn Errors of Metabolism ICM

2006 Makuhari, Chiba-Tokyo, Japan

A.S.Luder

1. Citrullinemia type II

outside east Asia-the

Israeli experience

2. Acute intermittent

porphyria presenting

as pervasive

developmental

disorder and mental

retardation

17th World Congress on Medicine

and Law

2008 Beijing, China

A.S.Luder

Ethical and legal dilemmas

regarding immunisation

programmes

European Society for Congenital

Disorders of Metabolism

2008 Amsterdam, Holland

Prof. H. Mandel

Fructose intolerance mimics

CDG I

Genome Stability in Health and

Disease. Institute for Advanced

Studies

2008 Hebrew University Jerusalem

Dr. Z. Falik-Borenstein

A common mutation in the

CSB gene is responsible for

the severe type II Cockayne

syndrome among Druze in

northern Israel

National Conference on Nature,

Nurture and Research in Autism-

Combined Challenges

2009 Sheba Medical Centre, Tel

Hashomer

A.S.Luder

Acute Intermittent Porphyria

Associated with Pervasive

Developmental Disorder

International Congress on

Bioethics Committees in

Hospitals

2009 Safed (under auspices of UNESCO

and International Centre for Law Ethics

and Medicine, University of Haifa)

A.S.Luder

Current regulatory

atmosphere may be harming

clinical research. An ethical

paradox

81st Berzelius Symposium on

Porphyrias

2009 Swedish Society of Medicine,

Stockholm, Sweden

A.S.Luder

Awareness is the Name of the

Game; Autism and Acute

Porphyria

European Society of Paediatric

Infectious Diseases ESPID

2010 Nice, France

A.S.Luder

Acute B cell lymphoblastic

leukaemia presenting as non-

tropical pyomyositis due to

Streptococcus G in a 6-year-

old girl

3rd Annual Wingate Conference

on the Advancement and

Development of Sport in Israel

2010 Jerusalem

Prof. Y. Weinstein

Recovery of muscle power

following 30s Wingate Arms

Anaerobic Test: Comparing

boys and men

Israel Association Medical

Genetics

2010 Jerusalem National registry for Primary

Ciliary Dyskinesia

Israel Society for Otolaryngology

and Head and Neck Surgery

2011 Eilat 1. An Accidental Out-Of-

Hospital Delivery

Complicated by Acute

Neonatal Parotitis

2. Histiocytic Necrotizing

(Kickuchi)

Lympadenitis

18th International Congress for

Aerosols in Medicine

2011 Rotterdam, Holland Lung Aerosol Deposition in

Suckling Infants

Experimental Biology 2013 Boston, USA Building a new anatomy

program in Israel

5th International Clinical Skills

Conference

2013 Prato, Italy

A. S. Luder

1. An Innovative clinical skills

program in a new medical

school

2. Establishing a Mentorship

Program in a New Medical

School

Other Major Conference Participation

7th International Congress on Inherited Disorders of

Metabolism

1997, Vienna, Austria

3rd International Conference on Urea Cycle Disorders 1997, Vienna, Austria

Course on Carbohydrate Deficient Glycoprotein

Syndrome

1997 University of Amsterdam, Holland

8th Annual Conference American College of Medical

Genetics

1999 Miami, FL, USA

8th International Congress on Inherited Disorders of

Metabolism

2000 Cambridge, UK

European Haematology and Oncology Association Bi-

national Congress

2002 Paris, France

2nd International Congress on Chronic Disorders in

Childhood (Session Chairman)

2008 Jerusalem

10th International Workshop on Lysosomal Storage

Disorders

2010 Prague, Czech Republic

10th International Symposium on Lysosomal Storage

Disease

2011 Madrid, Spain

11th International Workshop on Lysosomal Storage

Disorders

2012 London, UK

Society for the Study of Inborn Errors of Metabolism

Annual Meeting

2012 Birmingham, UK

Society for the Study of Inborn Errors of Metabolism

Annual Meeting

2014 Innsbruck Austria

C. Participation in Organizing Conferences and Courses

Conference Place and Time Role

Israel Metabolic Society summer

conference-Storage disease

Soroka Medical Centre, Beer Sheva,

July 2013

Head of society and organizing

committee

Israel Metabolic Society winter

conference-Neuro-metabolic

disease

Wolfson Medical Centre, Bat Yam,

Israel, February 2013


committee

Israel Metabolic Society winter

conference-Diagnostic methods

Hadassah Medical Centre, Ein

Kerem, Jerusalem, December 2011


committee

Israel Metabolic Society-New

Developments in Neurometabolic

Disease

Ha-Emek Medical Centre, Afula,

June 6 2011 Head of society and organizing

committee

3rd Ziv International Conference in

the Galilee-Advances in Trauma

and Trauma Orthpaedics.

Attendance 105 physicians. Budget

NIS 97,000. Academic aegis: Bar

Ilan Faculty of Medicine; Technion

Faculty of Medicine; Israel

Kfar Giladi, May 12-14 2011 Member of organizing committee

Association of Orthopaedics; Israel

Association of Plastic and Aesthetic

Surgery; Israel Medical Association

Israel Metabolic Society-Neonatal

Screening in Israel

Dana Children’s Hospital-Ichilov,

Tel Aviv, March 12, 2011 Head of society and organizing

committee

2nd Ziv International Conference in

the Galilee-Advances in

Hepatology. (In collaboration with

University of Lille, France and

Scientific Attaché Embassy of

France in Israel). Attendance 105

physicians. Budget NIS 67,000.

Academic aegis Technion Faculty of

Medicine; Israel Association of

Hepatology; Israel Paediatric

Association; Israel Medical

Association

Ramot, Golan, May 2010 Director organizing committee

1st Ziv International Conference in

the Galilee- Modern Paediatric

Anaesthesia (in collaboration with

University of Lille, France and

Scientific Attaché Embassy of

France in Israel). Attendance 87

physicians. Budget NIS 25,000.

Academic aegis; Technion faculty

of Medicine; Israel Association of

Anaesthetists; Israel Paediatric

Association; Israel Medical

Association

Hagoshrim, April 2009 Initiator and head of organizing

committee

1st National Course for First Part of

Specialty Examination in

Paediatrics (on behalf of the Israel

Association for Paediatricians).

Attendance 96 residents. Budget

65,000 NIS. 28 hours of instruction,

faculty 18 lecturers.

Zichron Yaakov, May 2008 Director and sole organizer

Israel Metabolic Society-Early

Detection of Metabolic Disease

Rambam Hospital, September 2007 Member of organizing committee

International Meeting on Ayelet Hashachar, July 2003 Director of organizing committee

Paediatric Lung Disease and

Empyema

Medical License Course for new

physician immigrants from East

Europe and South America (46

students, 560 hours instruction)

Academic aegis: Faculty of

Medicine (Technion) and the

Ministries of Health and Immigrant

Absorbtion. Success rate in

national licensing exams 55% on

first attempt (national average

22%).

Ziv Medical Centre, 2002 Director and organiser

National Conference on Paediatrics Safed, 2002 Director of organizing committee

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