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Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Liver Disease in the Ashkenazi-Jewish Lipoamide Dehydrogenase Deficiency.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1997, v. 24, n. 5, p. 1
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- Publication type:
- Article
The Molecular Background of Glycogen Metabolism Disorders.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 3, p. 363, doi. 10.1515/jpem.1999.12.3.363
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- Publication type:
- Article
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Holocarboxylase Synthetase Deficiency: A Treatable Metabolic Disorder Masquerading as Cerebral Palsy.
- Published in:
- Journal of Child Neurology, 1994, v. 9, n. 2, p. 170, doi. 10.1177/088307389400900213
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- Publication type:
- Article
Correspondence.
- Published in:
- Journal of Child Neurology, 1991, v. 6, n. 1, p. 90, doi. 10.1177/088307389100600118
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- Publication type:
- Article
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
- Published in:
- Human Mutation, 2002, v. 19, n. 1, p. 80, doi. 10.1002/humu.9001
- By:
- Publication type:
- Article
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations.
- Published in:
- Human Mutation, 1998, v. 12, n. 3, p. 141, doi. 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K
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- Publication type:
- Article
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence.
- Published in:
- Human Mutation, 1997, v. 10, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z
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- Publication type:
- Article
Iraqi-Jewish Kindreds with Optic Atrophy Plus (3-Methylglutaconic Aciduria Type 3) Demonstrate Linkage Disequilibrium with the CTG Repeat in the 3′ Untranslated Region of the Myotonic Dystrophy Protein Kinase Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 4, p. 563, doi. 10.1093/hmg/6.4.563
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- Publication type:
- Article