Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation. (Q48329441)

10 February 2018

title

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation. (English)

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10 February 2018

author name string

Krijn T Verbruggen

1

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Wilma A Knijff

2

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Roelineke J Soorani-Lunsing

3

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Paul E Sijens

4

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Nanda M Verhoeven

5

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Gajja S Salomons

6

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Siena M Goorhuis-Brouwer

7

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Francjan J van Spronsen

8

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publication date

21 December 2006

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10 February 2018

European Journal of Pediatrics

published in

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volume

166

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issue

9

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page(s)

921-925

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https://scigraph.springernature.com/pub.10.1007/s00431-006-0340-8

exact match

0 references

cites work

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-006-0340-8

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-006-0340-8

1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

21 January 2018

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12 December 2020

Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.

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Lack of creatine in muscle and brain in an adult with GAMT deficiency

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12 December 2020

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

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12 December 2020

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

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Creatine and creatinine metabolism

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Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

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12 December 2020

Guanidinoacetate methyltransferase deficiency: new clinical features.

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12 December 2020

Characterization of seven novel mutations in seven patients with GAMT deficiency

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12 December 2020

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

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12 December 2020

A Time Frame of Critical/Sensitive Periods of Language Development

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12 December 2020

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

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12 December 2020

X-linked creatine transporter defect: an overview

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12 December 2020

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency

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12 December 2020

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation

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12 December 2020

Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.

1 reference

12 December 2020

10.1007/S00431-006-0340-8

Identifiers

DOI

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10 February 2018

PubMed ID

17186272

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10 February 2018