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April 1, 2024Journal of Zhejiang University (Medical Sciences)Open Access

Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency

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Abstract

To investigate the clinical characteristic and genetic variants of children with carnitine palmitoyltransferase 2 (CPT2) deficiency.

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Cite This Study

Zhang et al. (2024) studied this question.

synapsesocial.com/papers/68e71600b6db64358768e719 https://doi.org/10.3724/zdxbyxb-2023-0611

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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

1Muscle Carnitine Palmityltransferase Deficiency and MyoglobinuriaOriginal Research · 1973 · 479 citations
2Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiencyGenetic Association Study · 2010 · 59 citations
3Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiencyOriginal Research · 2003 · 52 citations
4Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyOriginal Research · 2003 · 110 citations