Lysinuric protein intolerance caused by a homozygous <i>SLC7A7</i> deletion and presented with hyperferritinemia and osteoporosis in two siblings.

Kalay, Irem; Aykut, Hüseyin; Caliskan, Zuhal; Yigit, Gökhan; Wollnik, Bernd

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings.

Kalay, Irem; Aykut, Hüseyin; Caliskan, Zuhal; Yigit, Gökhan; Wollnik, Bernd.

Afiliación

Kalay I; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Aykut H; Department of Medical Genetics, Umraniye Training and Research Hospital, University of Health Sciences Turkey, Istanbul, Turkey.
Caliskan Z; Department of Gastroenterology, Umraniye Training and Research Hospital, University of Health Sciences Turkey, Istanbul, Turkey.
Yigit G; Department of Gastroenterology, Umraniye Training and Research Hospital, University of Health Sciences Turkey, Istanbul, Turkey.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

Mol Genet Metab Rep ; 37: 101022, 2023 Dec.

Article en En | MEDLINE | ID: mdl-38053936

Palabras clave

Hyperferritinemia; Lysinuric protein intolerance (LPI); Multiple bone fractures; SLC7A7 deletion

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2023 Tipo del documento: Article País de afiliación: Alemania