Works matching IS 01418955 AND DT 2008 AND VI 31 AND IP 4
Results: 10
Human carbamoyl-phosphate synthetase: Insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 481, doi. 10.1007/s10545-008-0913-y
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- Publication type:
- Article
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 508, doi. 10.1007/s10545-008-0900-3
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- Publication type:
- Article
Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening.
- Published in:
- 2008
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- Publication type:
- Letter
Correlates of language impairment in children with galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 524, doi. 10.1007/s10545-008-0877-y
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- Publication type:
- Article
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 540, doi. 10.1007/s10545-008-0867-0
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- Publication type:
- Article
Glutaric aciduria type I: outcome following detection by newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 503, doi. 10.1007/s10545-008-0912-z
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- Publication type:
- Article
Profiling of astrocyte properties in the hyperammonaemic brain: Shedding new light on the pathophysiology of the brain damage in hyperammonaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 492, doi. 10.1007/s10545-008-0834-9
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- Publication type:
- Article
Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 473, doi. 10.1007/s10545-008-0878-x
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- Publication type:
- Article
Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 518, doi. 10.1007/s10545-008-0884-z
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- Publication type:
- Article
FDG-PET findings in patients with galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 533, doi. 10.1007/s10545-008-0806-0
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- Publication type:
- Article