Michael P Champion

Ontology type: schema:Person     

Person Info


Michael P



Publications in SciGraph latest 50 shown

  • 2018-11 Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-01 Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2016-03 Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-12 A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-01 Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease in GENETICS IN MEDICINE
  • 2011-12 Symptomatic severe hypertriglyceridaemia with asparaginase therapy in acute lymphoblastic leukaemia (ALL) and lymphoblastic lymphoma: is rechallenging safe? in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2010-12 The diagnosis of inherited metabolic diseases by microarray gene expression profiling in ORPHANET JOURNAL OF RARE DISEASES
  • 2007-10 High frequency of missense mutations in glycogen storage disease type VI in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2007-06 A novel starch for the treatment of glycogen storage diseases in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2004-03 How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2002-02 A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain in EUROPEAN JOURNAL OF PEDIATRICS
  • 2000-03 Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1 in JOURNAL OF INHERITED METABOLIC DISEASE
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