ArticleArchives of disease in childhood2000
Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management.
Article in Archives of disease in childhood, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).Journal of inherited metabolic disease · 2007Guideline
- Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.Journal of inherited metabolic disease · 2013Trial
- Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.JIMD reports · 2022Article
- Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.JIMD reports · 2021Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.Iranian journal of child neurology · 2017Article
- Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.Neurogenetics · 2015Article
- Metabolomics approach reveals effects of antihypertensives and lipid-lowering drugs on the human metabolism.European journal of epidemiology · 2014Article
- Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.The neuroradiology journal · 2013Article
- Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.Medical science monitor : international medical journal of experimental and clinical research · 2011Article
- Diagnosis and management of glutaric aciduria type I--revised recommendations.Journal of inherited metabolic disease · 2011Review
- Role of carnitine in disease.Nutrition & metabolism · 2010Article
- Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type 1.Neuroradiology · 2005Article
- Glutaric aciduria type I: outcome in the Republic of Ireland.Journal of inherited metabolic disease · 2004Article
- Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 2004Review
- Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 2004Review
- Emergency treatment in glutaryl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 2004Review
- Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.European journal of pediatrics · 2003Review
- Neuroimaging findings in glutaric aciduria type 1.Pediatric radiology · 2003Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation.
settingThe National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland.
resultFour of the 6 children detected on screening are developmentally normal, 1 died, and the remaining 1 has mild mental handicap. All 6 of the late diagnosed symptomatic group suffered dyskinetic cerebral palsy and 5 have died.
conclusionExperience of 50 patient treatment years has shown that early intensive management can alter the natural history of this rare disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.