ORPHANET Company Profile

14:03 EST 14th December 2018 | BioPortfolio



102 rue Didot

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PubMed Articles [9 Associated PubMed Articles listed on BioPortfolio]

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well repo...

Retinal and optic nerve degeneration in α-mannosidosis.

α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial ...

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of ...

White matter microstructural damage in early treated phenylketonuric patients.

Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to eval...

Follow-up analysis of voice quality in patients with late-onset Pompe disease.

Late-onset Pompe disease (LOPD) is a metabolic myopathy disorder characterized by progressive muscle damage and among others dysfunction of the voice apparatus, which affects speech and - above all - ...

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