Found: 22
Select item for more details and to access through your institution.
Identification of a Gene for the Pyruvate Dehydrogenase E<sub>1</sub>α Subunit with a Deletion of Four Nucleotides from a Patient with Pyruvate Dehydrogenase Complex Deficiency.
- Published in:
- Annals of the New York Academy of Sciences, 1989, v. 573, n. 1, p. 458, doi. 10.1111/j.1749-6632.1989.tb15039.x
- By:
- Publication type:
- Article
Rapid Detection of CYP2C18 Genotypes by Real-time Fluorescence Polymerase Chain Reaction.
- Published in:
- Journal of Pharmacy & Pharmacology, 2000, v. 52, n. 2, p. 199, doi. 10.1211/0022357001773850
- By:
- Publication type:
- Article
Rapid detection of phenylketonuria mutations by non-radioactive single-strand conformation polymorphism analysis.
- Published in:
- Pediatrics International, 1994, v. 36, n. 3, p. 231, doi. 10.1111/j.1442-200X.1994.tb03169.x
- By:
- Publication type:
- Article
Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases.
- Published in:
- Pediatrics International, 1994, v. 36, n. 1, p. 30, doi. 10.1111/j.1442-200X.1994.tb03125.x
- By:
- Publication type:
- Article
Prenatal Diagnosis in High Risk Pregnancies for Zellweger Syndrome.
- Published in:
- Pediatrics International, 1992, v. 34, n. 4, p. 454, doi. 10.1111/j.1442-200X.1992.tb00986.x
- By:
- Publication type:
- Article
Treatment of Cystinosis: Decrease in Content of Free Cystine in Leukocytes and Alleviation of Progressive Renal Failure by Treatment with Riboflavin.
- Published in:
- Pediatrics International, 1986, v. 28, n. 4, p. 573, doi. 10.1111/j.1442-200X.1986.tb00762.x
- By:
- Publication type:
- Article
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut[sup 0] patients.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 1, p. 35, doi. 10.1007/s100380050103
- By:
- Publication type:
- Article
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 128, doi. 10.1007/s100380050053
- By:
- Publication type:
- Article
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 135, doi. 10.1007/s100380050055
- By:
- Publication type:
- Article
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 8, p. 717, doi. 10.1002/(SICI)1097-0223(199908)19:8<717::AID-PD625>3.0.CO;2-L
- By:
- Publication type:
- Article
Prenatal exclusion of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by direct detection of the mutation with PCR.
- Published in:
- 1992
- By:
- Publication type:
- Case Study
An acute form of tyrosinemia type I with multiple intrahepatic mass lesions.
- Published in:
- 1990
- By:
- Publication type:
- journal article
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 526, doi. 10.1007/s004390100603
- By:
- Publication type:
- Article
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 298, doi. 10.1007/s004390051041
- By:
- Publication type:
- Article
Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK sendai and PK shinshu.
- Published in:
- American Journal of Hematology, 1988, v. 28, n. 3, p. 186, doi. 10.1002/ajh.2830280312
- By:
- Publication type:
- Article
Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel cu/zn superoxide dismutase mutation.
- Published in:
- Annals of Neurology, 1995, v. 37, n. 5, p. 676, doi. 10.1002/ana.410370518
- By:
- Publication type:
- Article
Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Human Mutation, 2000, v. 15, n. 2, p. 189, doi. 10.1002/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H
- By:
- Publication type:
- Article
Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia.
- Published in:
- Human Mutation, 1999, v. 13, n. 4, p. 341, doi. 10.1002/(SICI)1098-1004(1999)13:4<341::AID-HUMU22>3.0.CO;2-V
- By:
- Publication type:
- Article
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E
- By:
- Publication type:
- Article
Neonatal Propionic Acidemia.
- Published in:
- Pediatrics International, 1981, v. 23, n. 2, p. 272, doi. 10.1111/j.1442-200X.1981.tb00465.x
- By:
- Publication type:
- Article
Folate Metabolism in Infantile Type of 5,10 Methlenetetrahydrofolate Reductase Deficiency.
- Published in:
- Pediatrics International, 1981, v. 23, n. 1, p. 82, doi. 10.1111/j.1442-200X.1981.tb01251.x
- By:
- Publication type:
- Article
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 867
- By:
- Publication type:
- Article