Found: 20
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Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene ( CYP27).
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 379, doi. 10.1023/A:1010564920930
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- Article
Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 423, doi. 10.1023/A:1010545811361
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- Article
Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 421, doi. 10.1023/A:1010537527291
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- Article
Clinical course and biochemistry of sialuria.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 328, doi. 10.1023/A:1010588115479
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- Article
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 417, doi. 10.1023/A:1010533408635
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- Article
Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 419, doi. 10.1023/A:1010585425473
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- Article
Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 413, doi. 10.1023/A:1010577207726
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- Article
Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 415, doi. 10.1023/A:1010581324565
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- Article
Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 407, doi. 10.1023/A:1010521105909
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- Article
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 411, doi. 10.1023/A:1010525206818
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- Article
Ketoacidosis: an unusual presentation of MELAS.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 409, doi. 10.1023/A:1010573122748
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- Article
Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 404, doi. 10.1023/A:1010569021839
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- Article
Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: Culturally permissible testing in the Mennonite community.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 393, doi. 10.1023/A:1010517005001
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- Article
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 370, doi. 10.1023/A:1010560704092
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- Article
Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 367, doi. 10.1023/A:1010556603183
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- Article
Plasma phenylalanine is asociated with decreased serum ubiquine-10 concentrations in phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 359, doi. 10.1023/A:1010500502275
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- Article
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 352, doi. 10.1023/A:1010596317296
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- Article
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 345, doi. 10.1023/A:1010544316387
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- Article
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β-oxidation defects.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 337, doi. 10.1023/A:1010592232317
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- Article
Management of neuronopathic Gaucher disease: A European consensus.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 319, doi. 10.1023/A:1010514614570
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- Article