ECHS1 deficiency and its biochemical and clinical phenotype.

Ozlu, Can; Chelliah, Priya; Dahshi, Hamza; Horton, Daniel; Edgar, Veronica B; Messahel, Souad; Kayani, Saima

Ozlu, Can; Chelliah, Priya; Dahshi, Hamza; Horton, Daniel; Edgar, Veronica B; Messahel, Souad; Kayani, Saima.

Afiliación

Ozlu C; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, United States.
Chelliah P; University of Texas Southwestern School of Medicine, Dallas, Texas, United States.
Dahshi H; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, United States.
Horton D; Children's Health, Dallas, Texas, United States.
Edgar VB; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, Texas, United States.
Messahel S; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, United States.
Kayani S; Children's Health, Dallas, Texas, United States.

Am J Med Genet A ; 188(10): 2908-2919, 2022 10.

Article en En | MEDLINE | ID: mdl-35856138

Asunto(s)

Enfermedad de Leigh; Calidad de Vida; Animales; Cardiomiopatías; Enoil-CoA Hidratasa; Ácidos Grasos; Cobayas; Enfermedad de Leigh/genética; Errores Innatos del Metabolismo Lipídico; Miopatías Mitocondriales; Proteína Trifuncional Mitocondrial/deficiencia; Enfermedades del Sistema Nervioso; Fenotipo; Rabdomiólisis; Valina/metabolismo

Palabras clave

ECHS1; Leigh syndrome; Leigh-like syndrome; metabolic encephalopathy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Calidad de Vida / Enfermedad de Leigh Tipo de estudio: Prognostic_studies Límite: Animals Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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