Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.

Okamoto, Nobuhiko; Ohto, Tatsuyuki; Enokizono, Takashi; Wada, Yoshinao; Kohmoto, Tomohiro; Imoto, Issei; Haga, Yoshimi; Seino, Junichi; Suzuki, Tadashi

Okamoto, Nobuhiko; Ohto, Tatsuyuki; Enokizono, Takashi; Wada, Yoshinao; Kohmoto, Tomohiro; Imoto, Issei; Haga, Yoshimi; Seino, Junichi; Suzuki, Tadashi.

Afiliação

Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
Ohto T; Department of Molecular Medicine, Research Institute, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
Enokizono T; Department of Pediatrics, Tsukuba University Faculty of Medicine, Tsukuba 305-8576, Japan.
Wada Y; Department of Pediatrics, Tsukuba University Faculty of Medicine, Tsukuba 305-8576, Japan.
Kohmoto T; Department of Molecular Medicine, Research Institute, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.
Imoto I; Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan.
Haga Y; Department of Human Genetics, Graduate School of Biomedical Science, Tokushima University Graduate School, Tokushima 770-8503, Japan.
Seino J; Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan.
Suzuki T; Department of Human Genetics, Graduate School of Biomedical Science, Tokushima University Graduate School, Tokushima 770-8503, Japan.

Cells ; 10(11)2021 11 10.

Article em En | MEDLINE | ID: mdl-34831340

Assuntos

Defeitos Congênitos da Glicosilação/genética; Manosidases/genética; Irmãos; Adolescente; Sequência de Aminoácidos; Sequência de Bases; Proteínas Sanguíneas/metabolismo; Criança; Pré-Escolar; Feminino; Humanos; Lactente; Recém-Nascido; Linfócitos/metabolismo; Masculino; Manosidases/química; Manosidases/metabolismo; Microssomos/metabolismo; Ácido N-Acetilneuramínico/metabolismo; Linhagem; Polissacarídeos/química; Espectrometria de Massas por Ionização por Electrospray; Sequenciamento do Exoma

Palavras-chave

MAN1B1; congenital disorders of glycosylation; early-onset epileptic encephalopathy; intellectual disability; mass spectrometry

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Irmãos / Manosidases Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Cells Ano de publicação: 2021 Tipo de documento: Article

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