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Unravelling the complex MRI pattern in glutaric aciduria type I using statistical modelsâ€â€a cohort study in 180 patients
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Treating inborn errors of liver metabolism with stem cells: current clinical development
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Clinical presentation and outcome in a series of 88 patients with the cblC defect
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Parkinsonism and inborn errors of metabolism
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Retrotransposon-derived elements in the mammalian genome: A potential source of disease
British Library Conference Proceedings | 2004|Keywords: Inborn errors -
After the genome-the phenome?
British Library Conference Proceedings | 2004|Keywords: Inborn errors -
Workshop Report: Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update
British Library Conference Proceedings | 2004|Keywords: Inborn errors -
Hepatocyte transplantation for inborn errors of metabolism
British Library Conference Proceedings | 2004|Keywords: Inborn errors -
The genetics and pathophysiology of diabetes mellitus type II
British Library Conference Proceedings | 2004|Keywords: Inborn errors -
Approach to diagnosis of metabolic diseases
Free accessIOS Press | 2016|Keywords: inborn errors of metabolism -
Evidence based patient information and participation of patients in medical decision making
British Library Conference Proceedings | 2004|Keywords: Inborn errors -
Cluster analysis of flowcytometric immunophenotyping with extended T cell subsets in suspected immunodeficiency
Free accessWiley | 2023|Keywords: inborn errors of immunity -
Early manifestation of cataract in a child heterozygous for classical galactosaemia and with diabetes mellitus type I; increased plasma mannitol concentration in cataract patients
British Library Conference Proceedings | 1994|Keywords: inborn errors -
A structural hypothesis for BH~4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
British Library Conference Proceedings | 2001|Keywords: inborn errors -
Wolman disease presenting as presumed abdominal malignancy
British Library Conference Proceedings | 2000|Keywords: inborn errors -
MECP2 mutations in 50 patients with Rett syndrome
British Library Conference Proceedings | 2000|Keywords: inborn errors -
Myoclonic epilepsy and peculiar abnormailty of CNS in a patient with hyperinsulinism and hyperammoniemia enzyme of neuroactive aminoa
British Library Conference Proceedings | 2000|Keywords: inborn errors -
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome
British Library Conference Proceedings | 2000|Keywords: inborn errors -
Bone mineral density (BMD) of patients with treated maple syrup urine disease (MSUD)
British Library Conference Proceedings | 2000|Keywords: inborn errors
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