A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
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Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disordersEnzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyEvaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders GuidelinesIs L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.Physical linkage of metabolic genes in fungi is an adaptation against the accumulation of toxic intermediate compoundsDiagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.Newborn screening and renal disease: where we have been; where we are now; where we are going.Extended newborn screening: an update for the general paediatrician.Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines.Inborn errors of metabolism and expanded newborn screening: review and update.Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information SystemPrimary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test.Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats.
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P2860
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on 21 December 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
A Delphi-based consensus clini ...... yl CoA carboxylase deficiency.
@en
A Delphi-based consensus clini ...... yl CoA carboxylase deficiency.
@nl
type
label
A Delphi-based consensus clini ...... yl CoA carboxylase deficiency.
@en
A Delphi-based consensus clini ...... yl CoA carboxylase deficiency.
@nl
prefLabel
A Delphi-based consensus clini ...... yl CoA carboxylase deficiency.
@en
A Delphi-based consensus clini ...... yl CoA carboxylase deficiency.
@nl
P2093
P1476
A Delphi-based consensus clini ...... yl CoA carboxylase deficiency.
@en
P2093
Annette Fiegenbaum
Barbara Burton
Bruce Barshop
Cary Harding
Cheryl Garganta
David Kronn
Dietrich Matern
Dwight D Koeberl
Georgianne L Arnold
James Gibson
P304
P356
10.1016/J.YMGME.2007.11.002
P577
2007-12-21T00:00:00Z