James F. Crow, William F. Dove (Editors), Perspectives on GENETICS: Anecdotal, historical and critical commentaries – 1987–1998.
- Published in:
- 2000
- By:
- Publication type:
- Book Review
Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 8
Results: 17
1
2
Subject Index to Volume 23.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 863, doi. 10.1023/A:1026785308029
- Publication type:
- Article
3
Author Index to Volume 23.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 859, doi. 10.1023/A:1026733323959
- Publication type:
- Article
4
A novel mitochondrial transfer RNA proline mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 853, doi. 10.1023/A:1026729223050
- By:
- Publication type:
- Article
5
A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 851, doi. 10.1023/A:1026777106212
- By:
- Publication type:
- Article
6
Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 847, doi. 10.1023/A:1026773005303
- By:
- Publication type:
- Article
7
Prolactin, a marker for cerebral dopamine deficiency in patients suffering from phenylketonuria (PKU)?
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 849, doi. 10.1023/A:1026725122142
- By:
- Publication type:
- Article
8
Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 845, doi. 10.1023/A:1026721021233
- By:
- Publication type:
- Article
9
Ornithine carbamoyltransferase deficiency presenting with chorea in a female.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 843, doi. 10.1023/A:1026768904395
- By:
- Publication type:
- Article
10
Neuroleptic malignant syndrome in a patient with citrullinaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 841, doi. 10.1023/A:1026716820324
- By:
- Publication type:
- Article
11
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 835, doi. 10.1023/A:1026764703486
- By:
- Publication type:
- Article
12
Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 826, doi. 10.1023/A:1026712719416
- By:
- Publication type:
- Article
13
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 805, doi. 10.1023/A:1026708618507
- By:
- Publication type:
- Article
14
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 791, doi. 10.1023/A:1026756501669
- By:
- Publication type:
- Article
15
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 778, doi. 10.1023/A:1026704517598
- By:
- Publication type:
- Article
16
Treating glucosphingolipid disorders by chemotherapy: Use of approved drugs and over-the-counter remedies.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 767, doi. 10.1023/A:1026796200760
- By:
- Publication type:
- Article
17
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 819, doi. 10.1023/A:1026760602577
- By:
- Publication type:
- Article