Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alexandra Lemaigre"'
Publikováno v:
Paediatric Clinical Leaders: Service Planning, Provision and Best Practice.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d64a43f6b9dc90eed9155758f9cc1240
https://doi.org/10.1136/archdischild-2022-rcpch.567
https://doi.org/10.1136/archdischild-2022-rcpch.567
Autor:
Stephanie Grunewald, Anna Sarkozy, Alberto A. Zambon, Alexandra Lemaigre, Emma Clement, Francesco Muntoni, Rahul Phadke, Caroline Sewry
Publikováno v:
Neuromuscular Disorders. 31:212-217
Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1. This encodes for mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca++ channel involved in vesicular traffic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e83b2f4da786a904cae9fcf092dc8ae
https://doi.org/10.1016/j.nmd.2020.12.009
https://doi.org/10.1016/j.nmd.2020.12.009
Publikováno v:
Archives of disease in childhood - Education & practice edition. 105:222-224
A 6-month-old girl of Asian origin presented with bowing of her right leg noted from a few weeks of age. There was no history suggestive of trauma to the limb. Birth history, social history, developmental history and family history were unremarkable.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e740f3aa5c09df1fa7c2676e0e44af8e
https://doi.org/10.1136/archdischild-2018-316277
https://doi.org/10.1136/archdischild-2018-316277