Phenotypic expansion of ARSK-related mucopolysaccharidosis.

Rustad, Cecilie F; Prescott, Trine E; Merckoll, Else; Kristensen, Erle; Salvador, Cathrin L; Nordgarden, Hilde; Tveten, Kristian

Rustad, Cecilie F; Prescott, Trine E; Merckoll, Else; Kristensen, Erle; Salvador, Cathrin L; Nordgarden, Hilde; Tveten, Kristian.

Afiliación

Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway.
Kristensen E; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Salvador CL; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Nordgarden H; TAKO-centre (National Resource Centre for Oral health in Rare Disorders), Lovisenberg Diaconal Hospital, Oslo, Norway.
Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.

Am J Med Genet A ; 188(11): 3369-3373, 2022 11.

Article en En | MEDLINE | ID: mdl-35959767

Asunto(s)

Mucopolisacaridosis; Mucopolisacaridosis VI; N-Acetilgalactosamina-4-Sulfatasa; Humanos

Palabras clave

ARSK; arylsulfatase K; mucopolysaccharidosis; skeletal

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis / Mucopolisacaridosis VI / N-Acetilgalactosamina-4-Sulfatasa Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Noruega Pais de publicación: Estados Unidos

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