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Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 6, p. 619, doi. 10.1007/s00439-010-0822-7
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- Publication type:
- Article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- 2003
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- Publication type:
- Erratum
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 161, doi. 10.1007/s00439-002-0761-z
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- Publication type:
- Article
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 108, doi. 10.1007/s004390051017
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- Publication type:
- Article
Steroid Sulfatase Activity in Nails: Screening for X-Linked Ichthyosis.
- Published in:
- Pediatric Dermatology, 1990, v. 7, n. 4, p. 266, doi. 10.1111/j.1525-1470.1990.tb01022.x
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- Publication type:
- Article
Presumed BCG Infection in a Boy with Chronic Granulomatous Disease.
- Published in:
- Clinical Pediatrics, 1984, v. 23, n. 10, p. 586, doi. 10.1177/000992288402301011
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- Publication type:
- Article
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 235, doi. 10.1530/EJE-11-0785
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- Publication type:
- Article
Markedly Increased ω-Oxidation of Valproate in Fulminant Hepatic Failure.
- Published in:
- Epilepsia (Series 4), 1990, v. 31, n. 2, p. 214, doi. 10.1111/j.1528-1167.1990.tb06309.x
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- Publication type:
- Article
Manganese elevations in blood of children with congenital portosystemic shunts.
- Published in:
- 2001
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- Publication type:
- journal article
Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening.
- Published in:
- 2000
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- Publication type:
- journal article
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 141, doi. 10.1007/s10545-009-9036-3
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- Publication type:
- Article
Surgical intervention for patent ductus venosus.
- Published in:
- 2010
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- Publication type:
- journal article
Novel mutation of methylmalonyl-CoA mutase gene causing the mut <sup>0</sup> form of methylmalonic acidemia in a Japanese girl.
- Published in:
- Pediatrics International, 2007, v. 49, n. 2, p. 232, doi. 10.1111/j.1442-200X.2007.02325.x
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- Publication type:
- Article
Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening.
- Published in:
- Pediatrics International, 2004, v. 46, n. 1, p. 5, doi. 10.1111/j.1442-200X.2004.01825.x
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- Publication type:
- Article
Limited effectiveness of betaine therapy for cystathionine β synthase deficiency.
- Published in:
- Pediatrics International, 2003, v. 45, n. 3, p. 333, doi. 10.1046/j.1442-200X.2003.01714.x
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- Publication type:
- Article
Pharmacokinetics of etoposide with intravenous drug administration in children and adolescents.
- Published in:
- Pediatrics International, 2003, v. 45, n. 1, p. 74, doi. 10.1046/j.1442-200X.2003.01675.x
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- Publication type:
- Article
Betaine and homocysteine concentrations in foods.
- Published in:
- Pediatrics International, 2002, v. 44, n. 4, p. 409, doi. 10.1046/j.1442-200X.2002.01591.x
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- Publication type:
- Article
Comparative pharmacokinetics of oral 6-mercaptopurine and intravenous 6-mercaptopurine riboside in children.
- Published in:
- Pediatrics International, 2001, v. 43, n. 6, p. 673, doi. 10.1046/j.1442-200X.2001.01475.x
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- Publication type:
- Article
Failure of cortisone acetate therapy in 21-hydroxylase deficiency in early infancy.
- Published in:
- Pediatrics International, 2001, v. 43, n. 5, p. 478, doi. 10.1046/j.1442-200X.2001.01432.x
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- Publication type:
- Article
Delay of liver maturation as a cause of transient neonatal galactosemia.
- Published in:
- Pediatrics International, 2000, v. 42, n. 1, p. 61, doi. 10.1046/j.1442-200X.2000.01181.x
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- Publication type:
- Article
Transient galactosemia detected by neonatal mass screening.
- Published in:
- Pediatrics International, 1999, v. 41, n. 3, p. 281, doi. 10.1046/j.1442-200X.1999.01070.x
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- Publication type:
- Article
Frequency of steroid sulfatase deficiency in Hiroshima.
- Published in:
- Pediatrics International, 1998, v. 40, n. 1, p. 63, doi. 10.1111/j.1442-200X.1998.tb01404.x
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- Publication type:
- Article
High Risk Screening of Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency in Japan.
- Published in:
- Pediatrics International, 1987, v. 29, n. 1, p. 152, doi. 10.1111/j.1442-200X.1987.tb00022.x
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- Publication type:
- Article
Screening for Adenosine Deaminase or Purine Nucleoside Phosphorylase Deficiency and a Report of Two Patients with Adenosine Deaminase Deficiency.
- Published in:
- Pediatrics International, 1981, v. 23, n. 1, p. 66, doi. 10.1111/j.1442-200X.1981.tb01248.x
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- Publication type:
- Article
Kell Phenotypes in 15 Japanese Patients with Chronic Granulomatous Disease.
- Published in:
- Vox Sanguinis, 1979, v. 37, n. 1, p. 39, doi. 10.1111/j.1423-0410.1979.tb02266.x
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- Publication type:
- Article