Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( <i>SLC6A8</i> )-Reference-Cited by-同舟云学术

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 )

Published:2024-04-23 Issue:8 Volume:102 Page:
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Curie Aurore¹^ORCID,Lion-François Laurence¹,Valayannopoulos Vassili¹,Perreton Nathalie¹,Gavanon Marie¹,Touil Nathalie¹,Brun-Laurisse Amandine¹,Gheurbi Fahra¹,Buchy Marion¹,Halep Hulya¹,Cheillan David¹,Mercier Catherine¹,Brassier Anaïs¹,Desnous Béatrice¹,Kassai Behrouz¹,De Lonlay Pascale¹^ORCID,Des Portes Vincent¹

Affiliation:

1. From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000209243

Reference31 articles.

1. X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

2. National Organisation for Rare Diseases (NORD). Rare Disease Database: Creatine Transporter Deficiency. Accessed September 23, 2022. rarediseasesorg/rare-diseases/creatine-transporter-deficiency/

3. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

4. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

5. X-linked creatine transporter deficiency: clinical aspects and pathophysiology

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