&#945;-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.

Wiesinger, Thomas; Schwarz, Markus; Mechtler, Thomas P; Liebmann-Reindl, Sandra; Streubel, Berthold; Kasper, David C

α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.

Wiesinger, Thomas; Schwarz, Markus; Mechtler, Thomas P; Liebmann-Reindl, Sandra; Streubel, Berthold; Kasper, David C.

Afiliação

Wiesinger T; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria. Electronic address: t.wiesinger@archimedlife.com.
Schwarz M; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria.
Mechtler TP; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria.
Liebmann-Reindl S; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria.
Streubel B; Department of Pathology, The Medical University of Vienna, 1090 Vienna, Austria.
Kasper DC; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria. Electronic address: d.kasper@archmedlife.com.

Mol Genet Metab ; 130(2): 149-152, 2020 06.

Article em En | MEDLINE | ID: mdl-32331969

Assuntos

Mutação; alfa-Manosidase/sangue; alfa-Manosidase/genética; alfa-Manosidose/diagnóstico; Teste em Amostras de Sangue Seco; Humanos; Projetos Piloto; alfa-Manosidose/enzimologia; alfa-Manosidose/genética

Palavras-chave

Dried blood spots; Lysosomal storage disease; Mucopolysaccharidosis; Rare disease; Tandem mass spectrometry; α-Mannosidosis; α-mannosidase

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa-Manosidase / Alfa-Manosidose / Mutação Limite: Humans Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article

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