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Clinical characterization of a novel congenital disorder of glycosylation (DPM2 mutation)
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
CDG-II caused by mutations in a novel gene probably associated with golgi function
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Workshop Report: Congenital disorders of glycosylation (CDG): Update and new developments
British Library Conference Proceedings | 2004|Keywords: Inborn errors -
255-A Congenital disorder of glycosylation type I a
British Library Conference Proceedings | 2007|Keywords: Inborn errors of metabolism -
257-P Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
British Library Conference Proceedings | 2007|Keywords: Inborn errors of metabolism -
450-P Sclerosing cholangitis is a hepatic manifestation of long-term infantile nephropathic cystinosis
British Library Conference Proceedings | 2007|Keywords: Inborn errors of metabolism -
484-P 2-Year follow-up of enzyme therapy in 5 children with Pompe disease
British Library Conference Proceedings | 2007|Keywords: Inborn errors of metabolism -
507-P A novel neutropenia syndrome with transient biliary ductopenia, facial dysmorphy and progressive sensorimotor polyneuropathy
British Library Conference Proceedings | 2007|Keywords: Inborn errors of metabolism -
268-O Screening for COG defects in CDG-IIx patients
British Library Conference Proceedings | 2007|Keywords: Inborn errors of metabolism -
Congenital disorders of glycosylation (CDG): It's all in it!
British Library Conference Proceedings | 2003|Keywords: inborn errors -
254-P A peroxisomal biogenesis disorder causing spinocerebellar ataxia in an adult
British Library Conference Proceedings | 2008|Keywords: Inborn errors of metabolism -
189-O A possible role for the Conserved Oligomeric Golgi complex subunit 1 (COG1) in autosomal recessive cerebrocostomandibular syndrome
British Library Conference Proceedings | 2008|Keywords: Inborn errors of metabolism -
361-P Liver transplantation for argininosuccinate lyase deficiency: clinical, biochemical and neuroimaging follow-up
British Library Conference Proceedings | 2008|Keywords: Inborn errors of metabolism -
509-P Successful `transplantation' of MRI Quantitative Chemical Shift Imaging (QCSI) technology for the detection of bone marrow fat signal fraction in type I Gaucher disease, from Amsterdam to Leuven
British Library Conference Proceedings | 2008|Keywords: Inborn errors of metabolism -
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
British Library Conference Proceedings | 1997|Keywords: inborn errors -
Carbohydrate-deficient glycoprotein syndrome - a new variant
British Library Conference Proceedings | 1998|Keywords: inborn errors -
Cystinuria with a Prader-Willi-like phenotype including growth retardation: the hypotonia-cystinuria syndrome
British Library Conference Proceedings | 1998|Keywords: inborn errors -
Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency
British Library Conference Proceedings | 1997|Keywords: inborn errors -
Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type I
British Library Conference Proceedings | 1996|Keywords: inborn errors
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