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American Journal of Medical Genetics

Volumn 99, Issue 2, 2001, Pages 159-160

Isolated glycerol kinase deficiency and fanconi anemia [1]

(6) Sjarif, D R a Revesz T a de Koning, T J a Duran, M a Beemer, F A a Poll The, B T a

a UNIVERSITY MEDICAL CENTER UTRECHT (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCEROL KINASE;

AUTOSOMAL RECESSIVE DISORDER; BRAIN TUMOR; CASE REPORT; CHILD; CLINICAL FEATURE; COMORBIDITY; DIAGNOSTIC PROCEDURE; DISEASE COURSE; ENZYME DEFICIENCY; FANCONI ANEMIA; GENETIC ANALYSIS; HUMAN; LETTER; MALE; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE DISORDER;

BRAIN NEOPLASMS; CHILD; FANCONI ANEMIA; GANGLIOGLIOMA; GLYCEROL KINASE; HUMANS; OCCIPITAL LOBE;

EID: 0035281649 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(2000)9999:999<00::AID-AJMG1137>3.0.CO;2-4 Document Type: Letter

Times cited : (4)

References (5)

1
- 0028243559
- Brain tumors in patients with Fanconi's anemia
- (1994) Arch Pediatr Adolesc Med , vol.148 , pp. 661-663
- Alter, B.P.¹ Tenner, M.S.²

2
- 0030884238
- Molecular biology of Fanconi anemia: Implication for diagnosis and therapy
- (1997) Blood , vol.90 , pp. 1725-1736
- D'Andrea, A.D.¹ Grompe, M.²

3
- 0002098977
- Disorders of glycerol metabolism
- Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
- (1995) The metabolic and molecular bases of inherited disease, 7th ed , pp. 1631-1643
- McCabe, E.R.¹

4
- 0031828025
- Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency
- (1998) J Med Genet , vol.35 , pp. 650-656
- Sjarif, D.R.¹ Sinke, R.J.² Duran, M.³

5
- 0031944906
- DNA repair disorders
- (1998) Arch Dis Child , vol.78 , pp. 178-184
- Woods, C.G.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.