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l-Carnitine and Acetyl-l-carnitine Roles and Neuroprotection in Develo** Brain
Abstract l-Carnitine functions to transport long chain fatty acyl-CoAs into the mitochondria for
degradation by β-oxidation. Treatment with l-carnitine can ameliorate metabolic imbalances …
degradation by β-oxidation. Treatment with l-carnitine can ameliorate metabolic imbalances …
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
N Boy, C Mühlhausen, EM Maier, J Heringer… - Journal of inherited …, 2017 - Springer
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic
disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic …
disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic …
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision
N Boy, C Mühlhausen, EM Maier… - Journal of inherited …, 2023 - Wiley Online Library
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism
caused by pathogenic gene variations in GCDH (cytogenic location: 19p13. 13), resulting in …
caused by pathogenic gene variations in GCDH (cytogenic location: 19p13. 13), resulting in …
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Background The clinical presentation of patients with organic acidurias (OAD) and urea
cycle disorders (UCD) is variable; symptoms are often non‐specific. Aims/methods To …
cycle disorders (UCD) is variable; symptoms are often non‐specific. Aims/methods To …
Diagnosis and management of glutaric aciduria type I–revised recommendations
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria.
Untreated patients characteristically develop dystonia during infancy resulting in a high …
Untreated patients characteristically develop dystonia during infancy resulting in a high …
L-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders
In recent years increasing evidence has emerged suggesting that oxidative stress is
involved in the pathophysiology of a number of inherited metabolic disorders. However the …
involved in the pathophysiology of a number of inherited metabolic disorders. However the …
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-
hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute …
hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute …
Exploring genotype–phenotype correlations in glutaric aciduria type 1
IME Schuurmans, B Dimitrov, J Schröter… - Journal of Inherited …, 2023 - Wiley Online Library
Abstract Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by
pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase …
pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase …
Newborn screening: a disease‐changing intervention for glutaric aciduria type 1
N Boy, K Mengler, E Thimm, KA Schiergens… - Annals of …, 2018 - Wiley Online Library
Objective Untreated individuals with glutaric aciduria type 1 (GA1) commonly present with a
complex, predominantly dystonic movement disorder (MD) following acute or insidious onset …
complex, predominantly dystonic movement disorder (MD) following acute or insidious onset …
Use of guidelines improves the neurological outcome in glutaric aciduria type I
J Heringer, SPN Boy, R Ensenauer… - Annals of …, 2010 - Wiley Online Library
Objective: To evaluate the effect of treatment according to current evidence‐based
recommendations on the neurological outcome of patients with glutaric aciduria type I (GA …
recommendations on the neurological outcome of patients with glutaric aciduria type I (GA …