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Journal of Inherited Metabolic Disease|July 10, 2009
Danon disease: case report and detection of new mutationG Regelsberger, R Höftberger, W F Pickl, et al.Molecular Genetics and Metabolism Reports|September 6, 2018
Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong KongS C Chong, P Lo, C W Chow, et al.Clinical Genetics|May 12, 2015
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotypeM Koenighofer, C Y Hung, J L McCauley, et al.Journal of Medical Genetics|February 6, 2004
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutationK Szigeti, L-J C Wong, C-L Perng, et al.Molecular Genetics and Metabolism|March 13, 2012
Expert recommendations for the laboratory diagnosis of MPS VIT Wood, O A Bodamer, M G Burin, et al.Clinical Genetics|September 14, 2007
Identification of proximal 1p36 deletions using array-CGH: a possible new syndromeS-H L Kang, A Scheffer, Z Ou, et al.Journal of Inherited Metabolic Disease|June 20, 2008
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centresT Zwickler, M Lindner, H I Aydin, et al.Neurology|March 23, 2005
Cerebral folate deficiency with developmental delay, autism, and response to folinic acidP Moretti, T Sahoo, K Hyland, et al.Journal of Inherited Metabolic Disease|July 31, 2009
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parametersF Hörster, S F Garbade, T Zwickler, et al.Molecular Genetics and Metabolism|November 26, 2008
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiencyS U Dhar, F Scaglia, F-Y Li, et al.Pageof 6