Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia.

Stergachis, Andrew B; Krier, Joel B; Merugumala, Sai K; Berry, Gerard T; Lin, Alexander P

Stergachis, Andrew B; Krier, Joel B; Merugumala, Sai K; Berry, Gerard T; Lin, Alexander P.

Afiliação

Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Krier JB; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Merugumala SK; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Berry GT; Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Lin AP; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Mol Genet Metab Rep ; 27: 100742, 2021 Jun.

Article em En | MEDLINE | ID: mdl-33763331

Palavras-chave

BG, Basal ganglia; Cerebral glutamine; Cerebral myo-inositol; Gln, Glutamine; Magnetic resonance spectroscopy; NAA, N-acetylaspartate; NAAG, N-acetylaspartylglutamate; NCH, Non-cirrhotic hyperammonemia; Non-cirrhotic hyperammonemia; PCG, Posterior cingulate gyrus; PWM, Parietal white matter; Urea cycle disorder; mI, Myo-inositol

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

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