Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 1
Results: 13
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 61, doi. 10.1007/s10545-009-9029-2
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- Article
Disease severity in sibling pairs with type 1 Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 79, doi. 10.1007/s10545-009-9024-7
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- Article
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 1, doi. 10.1007/s10545-009-9004-y
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- Article
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 33, doi. 10.1007/s10545-009-9008-7
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- Article
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 69, doi. 10.1007/s10545-009-9018-5
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- Article
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 25, doi. 10.1007/s10545-009-9030-9
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- Article
A novel mutation in LMBRD1 causes the cblF defect of vitamin B<sub>12</sub> metabolism in a Turkish patient.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 17, doi. 10.1007/s10545-009-9032-7
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- Article
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 51, doi. 10.1007/s10545-009-9007-8
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- Article
Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias.
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- 2010
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- Correction Notice
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 43, doi. 10.1007/s10545-009-9003-z
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- Article
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 85, doi. 10.1007/s10545-009-9022-9
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- Article
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 9, doi. 10.1007/s10545-009-9002-0
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- Article
Tumoral calcinosis.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 91, doi. 10.1007/s10545-009-9019-4
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- Article