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Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism JOURNAL ARTICLE published December 2018 in Journal of Inherited Metabolic Disease Research funded by Dietmar Hopp Stiftung (23011205) |
Tetrahydrobiopterin treatment reduces brain L‐Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice JOURNAL ARTICLE published July 2018 in Journal of Inherited Metabolic Disease |
Arginine supplementation in four patients with X‐linked creatine transporter defect JOURNAL ARTICLE published December 2008 in Journal of Inherited Metabolic Disease |
Biology of neuronal dysfunction in storage disorders JOURNAL ARTICLE published March 1993 in Journal of Inherited Metabolic Disease |
Animal models of maple syrup urine disease JOURNAL ARTICLE published April 2009 in Journal of Inherited Metabolic Disease Research funded by National Institutes of Health (R43 DK57386,R43 DK57956) |
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease Research funded by Shire (IIR‐GBR‐000981) |
Newborn urine screening programme in the province of Quebec: An update of 30 years' experience JOURNAL ARTICLE published June 2003 in Journal of Inherited Metabolic Disease |
Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy JOURNAL ARTICLE published January 2012 in Journal of Inherited Metabolic Disease |
JOURNAL ARTICLE published September 2020 in Journal of Inherited Metabolic Disease |
Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases? JOURNAL ARTICLE published April 2001 in Journal of Inherited Metabolic Disease |
Muscle fiber‐type distribution, fiber‐type‐specific damage, and the Pompe disease phenotype JOURNAL ARTICLE published September 2013 in Journal of Inherited Metabolic Disease |
Long term outcome of organic acidurias: Survey of 105 French cases (1967–1983) JOURNAL ARTICLE published March 1984 in Journal of Inherited Metabolic Disease |
Clinical and biochemical studies in mucopolysaccharidosis type II carriers JOURNAL ARTICLE published December 2009 in Journal of Inherited Metabolic Disease |
Galactosaemia presenting as congenital pseudoafibrinogenaemia JOURNAL ARTICLE published December 1999 in Journal of Inherited Metabolic Disease |
Editorial: Mitochondrial medicine special issue JOURNAL ARTICLE published March 2021 in Journal of Inherited Metabolic Disease |
Oxidative stress in Phenylketonuria: future directions JOURNAL ARTICLE published May 2012 in Journal of Inherited Metabolic Disease |
A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality JOURNAL ARTICLE published September 2019 in Journal of Inherited Metabolic Disease Research funded by National Center for Advancing Translational Sciences (FP00096621) | National Institutes of Health (S10 RR027506‐01) |
JOURNAL ISSUE published September 2019 in Journal of Inherited Metabolic Disease |
The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha‐galactosidase gene is associated with decreased enzyme expression—Evidence from a family study JOURNAL ARTICLE published December 2008 in Journal of Inherited Metabolic Disease |
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose‐1‐phosphate uridyltransferase deficiency JOURNAL ARTICLE published January 1993 in Journal of Inherited Metabolic Disease |