Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

(2014) Clara D. van Karnebeek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource

(2014) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

(2014) J. B. Moeschler et al.   PEDIATRICS

Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome

(2012) Krisztián Kállay et al.   METABOLIC BRAIN DISEASE

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

(2012) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

(2012) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

(2012) Clara D M van Karnebeek et al.   Orphanet Journal of Rare Diseases

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

(2011) Siddharth Banka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

(2011) Miao He et al.   JOURNAL OF CLINICAL INVESTIGATION

Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2011) D. J. Michelson et al.   NEUROLOGY

Present Conceptualization of Early Childhood Neurodevelopmental Disabilities

(2009) Michael I. Shevell   JOURNAL OF CHILD NEUROLOGY

Yield of additional metabolic studies in neurodevelopmental disorders

(2008) Hannelie M. Engbers et al.   ANNALS OF NEUROLOGY

Genetic Evaluation of Intellectual Disabilities

(2008) John B. Moeschler   Seminars in Pediatric Neurology