Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 2
Results: 18
Mitochondrial ATP synthase: architecture, function and pathology.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 211, doi. 10.1007/s10545-011-9382-9
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- Article
Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 311, doi. 10.1007/s10545-011-9360-2
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- Article
Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 355, doi. 10.1007/s10545-011-9369-6
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- Article
Modeling mitochondrial dysfunctions in the brain: from mice to men.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 193, doi. 10.1007/s10545-011-9375-8
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- Article
The adult galactosemic phenotype.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 279, doi. 10.1007/s10545-011-9372-y
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- Article
Erratum to: Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.
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- 2012
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- Correction Notice
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 287, doi. 10.1007/s10545-011-9379-4
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- Article
Hearing loss in patients with mucopolysaccharidosis II: Data from HOS - the Hunter Outcome Survey.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 343, doi. 10.1007/s10545-011-9378-5
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- Article
The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 317, doi. 10.1007/s10545-011-9388-3
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- Article
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 269, doi. 10.1007/s10545-011-9391-8
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- Article
Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 363, doi. 10.1007/s10545-011-9390-9
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- Article
Pregnancy and its management in women with GSD type III - a single centre experience.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 245, doi. 10.1007/s10545-011-9384-7
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- Article
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 301, doi. 10.1007/s10545-011-9393-6
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- Article
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 325, doi. 10.1007/s10545-011-9395-4
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- Article
Hearing in adults with Pompe disease.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 335, doi. 10.1007/s10545-011-9396-3
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- Article
Prediction of long-term outcome in glycine encephalopathy: a clinical survey.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 253, doi. 10.1007/s10545-011-9398-1
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- Article
Fabry disease, enzyme replacement therapy and the significance of antibody responses.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 227, doi. 10.1007/s10545-011-9400-y
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- Article
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 263, doi. 10.1007/s10545-011-9394-5
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- Article