Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. (Q43202442)

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16 January 2020

title

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation (English)

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Antonia Ribes

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Jaume Campistol

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Rafael Artuch

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7

Begoña Merinero

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16 January 2020

author name string

Angela Sempere

1

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Guillermo Farré

3

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Judith García-Villoria

4

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Pilar Rodríguez-Pombo

5

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Lurdes R Desviat

6

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Angels García-Cazorla

8

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Maria A Vilaseca

9

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publication date

5 January 2010

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Journal of Inherited Metabolic Disease

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published in

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volume

33

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issue

1

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page(s)

1-7

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https://scigraph.springernature.com/pub.10.1007/s10545-009-9004-y

16 January 2020

exact match

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cites work

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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

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D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect

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Adenylosuccinate lyase deficiency

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Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses.

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Medical evaluation of persons with mental retardation referred for psychiatric assessment.

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Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.

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Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias

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Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging

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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

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Inborn errors of metabolism and motor disturbances in children

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

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Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

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Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency

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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

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Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center.

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Methods for the diagnosis of creatine deficiency syndromes: A comparative study

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[Orientation of mental retardation from neurometabolic diseases].

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Outcome of the routine assessment of patients with mental retardation in a genetics clinic

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The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

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

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GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

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Neurometabolic testing in developmental delay.

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Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

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A population-based study on the causes of mild and severe mental retardation.

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10.1007/S10545-009-9004-Y

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20049533%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

16 January 2020

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