(Q38187316)

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

scientific article published on 24 January 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

developmental disorder

1 reference

based on heuristic

inferred from title

author name string

Clara D M van Karnebeek

1

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

Michael Shevell

2

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

Johannes Zschocke

3

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

John B Moeschler

4

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

Sylvia Stockler

5

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Europe PubMed Central

PubMed publication ID

30 August 2017

publication date

24 January 2014

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Europe PubMed Central

PubMed publication ID

30 August 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

PubMed publication ID

30 August 2017

111

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Europe PubMed Central

PubMed publication ID

30 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

428-438

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11

1 reference

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7 January 2021

Naming, defining, and classifying in mental retardation

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7 January 2021

Present conceptualization of early childhood neurodevelopmental disabilities

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.011

7 January 2021

Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology

1 reference

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7 January 2021

People with intellectual disability and their health problems: a review of comparative studies

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7 January 2021

Emotional and behavioural problems in adolescents with intellectual disability with and without chronic diseases.

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7 January 2021

Demographic and epidemiological determinants of healthcare costs in Netherlands: cost of illness study

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7 January 2021

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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7 January 2021

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.011

7 January 2021

Genetic evaluation of intellectual disabilities

1 reference

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7 January 2021

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

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7 January 2021

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

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7 January 2021

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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7 January 2021

Chromosomal microarray testing influences medical management

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.011

7 January 2021

Metabolic disorders and mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.011

7 January 2021

Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders

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7 January 2021

Mental retardation and inborn errors of metabolism.

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7 January 2021

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

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7 January 2021

Clinical genetic evaluation of the child with mental retardation or developmental delays

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.011

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.011

7 January 2021

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

1 reference

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7 January 2021

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

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7 January 2021

Brain dopamine-serotonin vesicular transport disease and its treatment

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

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7 January 2021

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

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7 January 2021

Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.

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Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

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7 January 2021

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder

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7 January 2021

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

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7 January 2021

Neurometabolic testing in developmental delay.

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7 January 2021

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

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7 January 2021

Treatable inborn errors of metabolism causing neurological symptoms in adults

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7 January 2021

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

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7 January 2021

Yield of additional metabolic studies in neurodevelopmental disorders.

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7 January 2021

Newborn screening: how are we travelling, and where should we be going?

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Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

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7 January 2021

Identifiers

10.1016/J.YMGME.2014.01.011

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

ResearchGate publication ID

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