The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.
about
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementTreatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature reviewDelivery of epilepsy care to adults with intellectual and developmental disabilities.The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingFLAGS, frequently mutated genes in public exomes.A roadmap for precision medicine in the epilepsies.Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblingsExome Sequencing and the Management of Neurometabolic Disorders.Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.Metabolic evaluation of children with global developmental delay.Genomic diagnostics within a medically underserved population: efficacy and implications.Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.CAD mutations and uridine-responsive epileptic encephalopathy.Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.Current evidence-based recommendations on investigating children with global developmental delay.Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.The role of the clinician in the multi-omics era: are you ready?Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.Genetic Approach to Diagnosis of Intellectual Disability.
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P2860
The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
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name
The metabolic evaluation of th ...... uses and new digital resource.
@en
type
label
The metabolic evaluation of th ...... uses and new digital resource.
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prefLabel
The metabolic evaluation of th ...... uses and new digital resource.
@en
P2093
P1476
The metabolic evaluation of th ...... uses and new digital resource.
@en
P2093
Clara D M van Karnebeek
Johannes Zschocke
John B Moeschler
Michael Shevell
Sylvia Stockler
P304
P356
10.1016/J.YMGME.2014.01.011
P577
2014-01-24T00:00:00Z