Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Adang, Laura A; Schlotawa, Lars; Groeschel, Samuel; Kehrer, Christiane; Harzer, Klaus; Staretz-Chacham, Orna; Silva, Thiago Oliveira; Schwartz, Ida Vanessa D; Gärtner, Jutta; De Castro, Mauricio; Costin, Carrie; Montgomery, Esperanza Font; Dierks, Thomas; Radhakrishnan, Karthikeyan; Ahrens-Nicklas, Rebecca C

Adang, Laura A; Schlotawa, Lars; Groeschel, Samuel; Kehrer, Christiane; Harzer, Klaus; Staretz-Chacham, Orna; Silva, Thiago Oliveira; Schwartz, Ida Vanessa D; Gärtner, Jutta; De Castro, Mauricio; Costin, Carrie; Montgomery, Esperanza Font; Dierks, Thomas; Radhakrishnan, Karthikeyan; Ahrens-Nicklas, Rebecca C.

Afiliación

Adang LA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Schlotawa L; Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, Germany.
Groeschel S; University Children's Hospital, Tuebingen, Germany.
Kehrer C; University Children's Hospital, Tuebingen, Germany.
Harzer K; University Children's Hospital, Tuebingen, Germany.
Staretz-Chacham O; Division of Pediatrics, Metabolic Clinic Soroka Medical Centre, Beersheva, Israel.
Silva TO; Nuclimed-Clinical Research Center, Hospital de Clinicas de Porto Alegre-RS, Porto Alegre, Brazil.
Schwartz IVD; Nuclimed-Clinical Research Center, Hospital de Clinicas de Porto Alegre-RS, Porto Alegre, Brazil.
Gärtner J; Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, Germany.
De Castro M; Air Force Medical Genetics Center, Keesler AFB, Biloxi, Mississippi, USA.
Costin C; Akron Children's Hospital, Akron, Ohio, USA.
Montgomery EF; Division of Pediatric Genetics, University of Missouri School of Medicine, Columbia, Missouri, USA.
Dierks T; Department of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany.
Radhakrishnan K; Department of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany.
Ahrens-Nicklas RC; Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

J Inherit Metab Dis ; 43(6): 1298-1309, 2020 11.

Article en En | MEDLINE | ID: mdl-32749716

Asunto(s)

Leucodistrofia Metacromática/genética; Mucopolisacaridosis/genética; Enfermedad por Deficiencia de Múltiples Sulfatasas/genética; Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro/genética; Adolescente; Niño; Preescolar; Femenino; Genotipo; Glicina/análogos & derivados; Glicina/genética; Glicina/metabolismo; Humanos; Lactante; Internacionalidad; Leucodistrofia Metacromática/patología; Masculino; Mucopolisacaridosis/patología; Enfermedad por Deficiencia de Múltiples Sulfatasas/patología; Mutación; Fenotipo; Enfermedades Raras; Estudios Retrospectivos; Sulfatasas/deficiencia; Sulfatasas/genética

Palabras clave

leukodystrophy; mucopolysaccharidoses; multiple sulfatase deficiency; outcomes

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mucopolisacaridosis / Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro / Enfermedad por Deficiencia de Múltiples Sulfatasas / Leucodistrofia Metacromática Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

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