Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.

Nolan, D K; Pastore, M T; McBride, K L

Nolan, D K; Pastore, M T; McBride, K L.

Afiliación

Nolan DK; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Anthropology, The Ohio State University, Columbus, OH, USA. Electronic address: daniel.nolan@nationwidechildrens.org.
Pastore MT; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, OH, USA.

Eur J Med Genet ; 65(8): 104558, 2022 Aug.

Article en En | MEDLINE | ID: mdl-35779835

Asunto(s)

Trastornos Congénitos de Glicosilación; Discapacidad Intelectual; Trastornos Congénitos de Glicosilación/genética; Humanos; Discapacidad Intelectual/genética; Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/deficiencia; Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/genética; Fenotipo

Palabras clave

CDG; Congenital disorder of glycosylation; NGLY1; NGLY1 deficiency

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article Pais de publicación: Países Bajos

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