About: Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

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scientific article published on 01 June 1996

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 1996 (uk) article scientifique publié en 1996 (fr) im Juni 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunu de 1996 (ast) scientific article published on 01 June 1996 (en)
publication date	wds:Q71605943-963823F3-F0EB-443F-9E12-DC66F07F084D
publication date	1996-06-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q71605943-001E6B1A-38FC-45C3-ACF7-9C8B61E4E750 wds:Q71605943-03567764-80B0-4913-8124-61213E105215 wds:Q71605943-2A5E7018-F771-4A79-AF5D-5F8456130736 wds:Q71605943-2AC159EF-5170-4E74-890B-121B19382C2B wds:Q71605943-35260F8B-38BB-493A-9428-77E955796A1D wds:Q71605943-4DC38A41-5E8A-49F6-B90A-1CDB8F7C13C7 wds:Q71605943-565134DD-B7BD-47E5-84A3-D16DFA6FC8C4 wds:Q71605943-6596B8EA-77A1-433D-BC0D-CFF8ED83AF0D wds:Q71605943-75EC7C19-DA39-492C-91FA-1F7B92AE05BE wds:Q71605943-8C4FDD1F-85FE-44DB-BC9C-DA06EC1F2204 wds:Q71605943-9BC901D3-E4D1-4971-8779-D666C3DAAB4B wds:Q71605943-AC96D770-005C-47C7-B4CB-19372F864E6C wds:Q71605943-C9380977-DCD9-497F-9EF9-42B9A372F1ED wds:Q71605943-F8FB68E6-B7D6-4419-BA37-ED2C30E7CFDC wds:Q71605943-FBEC75FE-0A11-4521-84A1-8B31FED8935C
author name string	Christensen E Duran M Müller E Hoffmann GF Naughten ER Leonard JV Monavari AA Superti-Furga A de Klerk JB Zschocke J Lehnert W Burlina AB Athanassopoulos S Muntau AC Plecko-Starting B
rdfs:label	Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency (en) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency (nl)
skos:prefLabel	Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency (en) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency (nl)
name	Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency (en) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency (nl)
title	wds:Q71605943-4054E21A-CAA5-4EE5-B7BE-FE34E2F1932D
title	Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency (en)
page(s)	wds:Q71605943-B111F2B9-4DF4-4A3B-915D-D6731ACE121A
page(s)	115-123
instance of	wds:Q71605943-FCBCF4F2-A92E-430A-B433-F20413A8E989
instance of	scholarly article
PubMed ID	wds:Q71605943-9DC1AF11-7DD8-4C93-BF34-8328F8C9AAD6
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8837070
PubMed ID	8837070
published in	wds:Q71605943-236630F2-1C2A-4DF2-8373-EAE04C3E434F
published in	Neuropediatrics
issue	wds:Q71605943-A5C2DBF5-0516-4A3A-BF51-75651A0E152C
volume	wds:Q71605943-443AA95A-E244-47D2-A3DD-7859C8882E6E
issue	3
volume	27
DOI	wds:Q71605943-976A8191-9681-4C1B-95AC-0E7FC6EAD958
DOI	http://dx.doi.org/10.1055/S-2007-973761
DOI	10.1055/S-2007-973761
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71605943
is cites work of	Diagnosis and management of glutaric aciduria type I--revised recommendations Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series Mutation analysis in glutaric aciduria type I. Emergency treatment in glutaryl-CoA dehydrogenase deficiency Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China. Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Promising outcomes in glutaric aciduria type I patients detected by newborn screening. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Neuroimaging findings in glutaric aciduria type 1 Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier. Neurometabolic diseases of childhood Neonatal neuroimaging findings in inborn errors of metabolism Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency Neonatal screening for glutaryl-CoA dehydrogenase deficiency Glutaric acidemia type 1 Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: fever and tumour necrosis factor-alpha 3-hydroxyglutaric acid enhances glutamate uptake into astrocytes from cerebral cortex of young rats 3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses in cerebral cortex of young rats Glutaric acid induces oxidative stress in brain of young rats 3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro. Diagnosis and management of glutaric aciduria type I. Glutaric aciduria type 1 and neonatal screening: time to proceed?with caution Cerebral palsy: not always what it seems Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I) Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. L-carnitine in inborn errors of metabolism: what is the evidence? The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

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