Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.

Debs, Sarah; Ferreira, Carlos R; Groden, Catherine; Kim, H Jeffrey; King, Kelly A; King, Monique C; Lehky, Tanya; Cowen, Edward W; Brown, Laura H; Merideth, Melissa; Owen, Carter M; Macnamara, Ellen; Toro, Camilo; Gahl, William A; Soldatos, Ariane

Debs, Sarah; Ferreira, Carlos R; Groden, Catherine; Kim, H Jeffrey; King, Kelly A; King, Monique C; Lehky, Tanya; Cowen, Edward W; Brown, Laura H; Merideth, Melissa; Owen, Carter M; Macnamara, Ellen; Toro, Camilo; Gahl, William A; Soldatos, Ariane.

Afiliação

Debs S; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Ferreira CR; Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Groden C; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Kim HJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
King KA; National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
King MC; National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
Lehky T; Rehabilitation Medicine Department, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Cowen EW; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Brown LH; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Merideth M; Johns Hopkins Community Physicians_North Bethesda, Rockville, MD, USA.
Owen CM; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Macnamara E; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Toro C; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Gahl WA; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Soldatos A; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Am J Med Genet A ; 185(7): 2102-2107, 2021 07.

Article em En | MEDLINE | ID: mdl-34089226

Assuntos

Anormalidades Congênitas/genética; Ictiose/genética; Serina/biossíntese; Transaminases/genética; Adulto; Pré-Escolar; Anormalidades Congênitas/patologia; Feminino; Retardo do Crescimento Fetal/genética; Retardo do Crescimento Fetal/metabolismo; Retardo do Crescimento Fetal/patologia; Humanos; Ictiose/metabolismo; Ictiose/patologia; Deformidades Congênitas dos Membros/genética; Deformidades Congênitas dos Membros/patologia; Microcefalia/genética; Microcefalia/patologia; Transtornos Psicomotores/genética; Transtornos Psicomotores/patologia; Convulsões/genética; Convulsões/patologia; Serina/deficiência; Serina/genética; Esfingolipídeos/deficiência; Esfingolipídeos/genética; Transaminases/deficiência; Sequenciamento do Exoma

Palavras-chave

ichthyosis; inborn errors of metabolism; progressive neuropathy; serine; sphingolipids

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina / Anormalidades Congênitas / Transaminases / Ictiose Tipo de estudo: Diagnostic_studies Limite: Adult / Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

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