Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 5
Results: 21
Long-term outcome and intervention of urea cycle disorders in Japan.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 777, doi. 10.1007/s10545-011-9427-0
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- Article
Increased arterial stiffness is associated with high cardiovascular mortality in male Fabry patients.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 885, doi. 10.1007/s10545-011-9428-z
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- Article
Protein farnesylation and disease.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 917, doi. 10.1007/s10545-011-9445-y
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- Article
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 787, doi. 10.1007/s10545-011-9437-y
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Internet use by parents of infants with positive newborn screens.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 879, doi. 10.1007/s10545-011-9449-7
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- Article
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 823, doi. 10.1007/s10545-011-9429-y
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- Article
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 761, doi. 10.1007/s10545-011-9411-8
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- Article
A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 899, doi. 10.1007/s10545-011-9432-3
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- Article
Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 871, doi. 10.1007/s10545-011-9436-z
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- Article
Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 807, doi. 10.1007/s10545-011-9439-9
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- Article
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 749, doi. 10.1007/s10545-011-9440-3
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- Article
The measurement of urinary Δ-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 909, doi. 10.1007/s10545-011-9443-0
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- Article
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 797, doi. 10.1007/s10545-011-9426-1
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- Article
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 837, doi. 10.1007/s10545-012-9451-8
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- Article
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU).
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 817, doi. 10.1007/s10545-011-9448-8
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- Article
Single dose NTBC-treatment of hereditary tyrosinemia type I.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 831, doi. 10.1007/s10545-012-9450-9
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- Article
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 847, doi. 10.1007/s10545-011-9446-x
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- Article
Prevalence of symptoms in female Fabry disease patients: a case-control survey.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 891, doi. 10.1007/s10545-011-9447-9
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- Article
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 859, doi. 10.1007/s10545-012-9453-6
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- Article
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 737, doi. 10.1007/s10545-012-9492-z
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- Article
Commentary: What degree of hyperphenylalaninaemia requires treatment?
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 927, doi. 10.1007/s10545-012-9505-y
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- Article