(Q37580771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19685154%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

review article

1 reference

title

Mental retardation and inborn errors of metabolism (English)

1 reference

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5 February 2020

2

1 reference

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5 February 2020

Mercedes Serrano

3

1 reference

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5 February 2020

author name string

A García-Cazorla

1

1 reference

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5 February 2020

U Moog

4

1 reference

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5 February 2020

B Pérez-Dueñas

5

1 reference

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5 February 2020

P Póo

6

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5 February 2020

M Pineda

7

1 reference

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5 February 2020

J Campistol

8

1 reference

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5 February 2020

G F Hoffmann

9

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5 February 2020

publication date

14 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19685154%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

5 February 2020

published in

1 reference

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5 February 2020

volume

32

1 reference

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5 February 2020

issue

5

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5 February 2020

page(s)

597-608

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https://scigraph.springernature.com/pub.10.1007/s10545-009-0922-5

5 February 2020

exact match

0 references

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The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes.

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Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype

21 January 2018

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12 December 2020

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

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12 December 2020

Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness

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Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.

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The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome

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Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

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12 December 2020

Beta-mannosidae deficiency in two mentally retarded girls with intractable seizures

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12 December 2020

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

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12 December 2020

High prevalence of SLC6A8 deficiency in X-linked mental retardation

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12 December 2020

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

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12 December 2020

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

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12 December 2020

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

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12 December 2020

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

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12 December 2020

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

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12 December 2020

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

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Psychiatric symptoms in alpha-mannosidosis.

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12 December 2020

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

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12 December 2020

Metabolic and molecular bases of Menkes disease and occipital horn syndrome

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12 December 2020

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

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Beta-mannosidosis: a new cause of spinocerebellar ataxia.

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12 December 2020

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis

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12 December 2020

Genetic evaluation of intellectual disabilities

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12 December 2020

Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study

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12 December 2020

The molecular basis of neutral aminoacidurias

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12 December 2020

Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A.

1 reference

12 December 2020

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

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12 December 2020

Sanfilippo syndrome: a mini-review

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12 December 2020

Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.

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12 December 2020

[Evaluation and diagnosis of patients with developmental delay: standardised protocols from the paediatric point of view]

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12 December 2020

[Orientation of mental retardation from neurometabolic diseases].

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12 December 2020

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

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12 December 2020

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

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12 December 2020

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

1 reference

12 December 2020

Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients

1 reference

12 December 2020

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

1 reference

12 December 2020

Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia

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12 December 2020

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

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12 December 2020

Genes, plasticity and mental retardation.

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12 December 2020

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

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12 December 2020

Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death

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12 December 2020

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

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12 December 2020

X-linked creatine transporter defect: an overview

1 reference

12 December 2020

Atypical variants of nonketotic hyperglycinemia

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12 December 2020

Metabolic disorders and mental retardation

1 reference

12 December 2020

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype

1 reference

12 December 2020

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

1 reference

12 December 2020

Succinic semialdehyde dehydrogenase deficiency in children and adults

1 reference

12 December 2020

Sjögren-Larsson syndrome

1 reference

12 December 2020

Cognitive outcome in urea cycle disorders

1 reference

12 December 2020