Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.

Kör, Deniz; Seker-Yilmaz, Berna; Bulut, Fatma Derya; Kilavuz, Sebile; Öktem, Murat; Ceylaner, Serdar; Yildizdas, Dinçer; Önenli-Mungan, Neslihan

Kör, Deniz; Seker-Yilmaz, Berna; Bulut, Fatma Derya; Kilavuz, Sebile; Öktem, Murat; Ceylaner, Serdar; Yildizdas, Dinçer; Önenli-Mungan, Neslihan.

Afiliación

Kör D; Divisions of Pediatric Metabolism and Nutrition, Adana, Turkey.
Seker-Yilmaz B; Department of Pediatric Metabolism, Mersin City Hospital, Mersin, Turkey.
Bulut FD; Department of Pediatric Metabolism, Adana City Hospital, Adana, Turkey.
Kilavuz S; Divisions of Pediatric Metabolism and Nutrition, Adana, Turkey.
Öktem M; Düzen Biochemistry Laboratories, Ankara, Turkey.
Ceylaner S; Intergen Genetics Laboratories, Ankara, Turkey.
Yildizdas D; Divisions of Pediatric Intensive Care Unit, Çukurova University Faculty of Medicine, Adana, Turkey.
Önenli-Mungan N; Divisions of Pediatric Metabolism and Nutrition, Adana, Turkey.

Turk J Pediatr ; 61(3): 330-336, 2019.

Article en En | MEDLINE | ID: mdl-31916709

Asunto(s)

Proteínas de Caenorhabditis elegans/genética; Metilmalonil-CoA Descarboxilasa/genética; Mutación; Acidemia Propiónica/genética; Adolescente; Adulto; Niño; Preescolar; Femenino; Humanos; Lactante; Masculino; Fenotipo; Estudios Retrospectivos; Turquía

Palabras clave

PCCA; PCCB; Propionic acidemia; clinical features; novel mutation

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Caenorhabditis elegans / Metilmalonil-CoA Descarboxilasa / Acidemia Propiónica / Mutación Tipo de estudio: Observational_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Turk J Pediatr Año: 2019 Tipo del documento: Article País de afiliación: Turquía

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