[<sup>13</sup>C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

[¹³C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Ficicioglu, Can; Demirbas, Didem; Derks, Britt; Pai, G Shashidhar; Timson, David J; Rubio-Gozalbo, Maria Estela; Berry, Gerard T.

Ficicioglu C; Department of Pediatrics, Section of Biochemical Genetics The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine Philadelphia Pennsylvania USA.
Demirbas D; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.
Derks B; Department of Pediatrics Maastricht University Medical Centre Maastricht The Netherlands.
Pai GS; Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands.
Timson DJ; Medical University of South Carolina Children's Health, Division of Genetics Charleston South Carolina USA.
Rubio-Gozalbo ME; School of Pharmacy and Biomolecular Sciences University of Brighton Brighton UK.
Berry GT; Department of Pediatrics Maastricht University Medical Centre Maastricht The Netherlands.

JIMD Rep ; 59(1): 104-109, 2021 May.

Article en En | MEDLINE | ID: mdl-33977035