Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.

Lim, Chelsey Chaehee; Vockley, Jerry; Ujah, Otobo; Kirby, Russell S; Edick, Mathew J; Berry, Susan A; Arnold, Georgianne L

Lim, Chelsey Chaehee; Vockley, Jerry; Ujah, Otobo; Kirby, Russell S; Edick, Mathew J; Berry, Susan A; Arnold, Georgianne L.

Afiliación

Lim CC; University of Pittsburgh School of Medicine, USA.
Vockley J; University of Pittsburgh School of Medicine, USA.
Ujah O; UPMC Children's Hospital of Pittsburgh, USA.
Kirby RS; University of South Florida College of Public Health, USA.
Edick MJ; University of South Florida College of Public Health, USA.
Berry SA; Michigan Public Health Institute, USA.
Arnold GL; University of Minnesota School of Medicine, USA.

Mol Genet Metab Rep ; 32: 100884, 2022 Sep.

Article en En | MEDLINE | ID: mdl-35677112

Palabras clave

Fatty acid oxidation disorders; Genetics; Inborn errors of metabolism; LCHAD; MTFP; Mitochondrial trifunctional protein; Pediatrics; TFP; Trifunctional protein

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article