The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

Arash-Kaps, Laila; Komlosi, Katalin; Seegräber, Marlene; Diederich, Stefan; Paschke, Eduard; Amraoui, Yasmina; Beblo, Skadi; Dieckmann, Andrea; Smitka, Martin; Hennermann, Julia B

Arash-Kaps, Laila; Komlosi, Katalin; Seegräber, Marlene; Diederich, Stefan; Paschke, Eduard; Amraoui, Yasmina; Beblo, Skadi; Dieckmann, Andrea; Smitka, Martin; Hennermann, Julia B.

Afiliación

Arash-Kaps L; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.
Komlosi K; Adolescent Medicine, and Institute of Human Genetics, University Medical Center Mainz, Germany.
Seegräber M; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.
Diederich S; Adolescent Medicine, and Institute of Human Genetics, University Medical Center Mainz, Germany.
Paschke E; University Children's Hospital Graz, Austria.
Amraoui Y; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.
Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig.
Dieckmann A; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena.
Smitka M; Neuropediatric Department, Carl Gustav Carus University Children's Hospital Dresden, Germany.
Hennermann JB; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.

J Pediatr ; 215: 152-157.e3, 2019 12.

Article en En | MEDLINE | ID: mdl-31761138

Asunto(s)

Transportadoras de Casetes de Unión a ATP/metabolismo; ADN/genética; Gangliosidosis GM1/genética; Mutación; beta-Galactosidasa/genética; Adolescente; Austria/epidemiología; Niño; Preescolar; Análisis Mutacional de ADN; Femenino; Estudios de Seguimiento; Gangliosidosis GM1/diagnóstico; Gangliosidosis GM1/epidemiología; Genotipo; Alemania/epidemiología; Humanos; Incidencia; Lactante; Masculino; Fenotipo; Estudios Retrospectivos; Adulto Joven; beta-Galactosidasa/metabolismo

Palabras clave

GLB1 gene; GLB1-deficiency; beta-galactosidase-1 deficiency; chitotriosidase activity; elevated ASAT; genotype-phenotype-correlation

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ADN / Gangliosidosis GM1 / Beta-Galactosidasa / Transportadoras de Casetes de Unión a ATP / Mutación Tipo de estudio: Diagnostic_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: J Pediatr Año: 2019 Tipo del documento: Article País de afiliación: Alemania

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