Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

Autor: B Ellero, Christian Marescaux, P Chamouard, B Goichot, Laurent Vercueil, Christine Tranchant, Mathieu Anheim, Gabrielle Rudolf
Přispěvatelé: Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Departement de Gastroentérologie, CHU Strasbourg, Departement de Transplantation, ANTE-INSERM U836, équipe 9, Dynamique des réseaux synchrones épileptiques, Département de Neurologie, CHU Grenoble-Hôpital Michallon-CHU Grenoble-Hôpital Michallon, Département de Médecine Interne et Nutrition, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Deransart, Colin
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Hemolytic anemia
medicine.medical_specialty
Pathology
MESH: Mutation
MESH: Pedigree
Neurological disorder
MESH: Neuroacanthocytosis
Acanthocytosis
Central nervous system disease
03 medical and health sciences
0302 clinical medicine
MESH: Hepatolenticular Degeneration
MESH: Diagnosis
Differential
Internal medicine
Genetics
Medicine
[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Genetics (clinical)
ComputingMilieux_MISCELLANEOUS
030304 developmental biology
Chorea acanthocytosis
MESH: Consanguinity
0303 health sciences
MESH: Humans
business.industry
Chorea
MESH: Adult
ABCB4
medicine.disease
MESH: Male
3. Good health
Wilson's disease
Endocrinology
MESH: Family Health
030211 gastroenterology & hepatology
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
medicine.symptom
business
MESH: P-Glycoproteins
MESH: Female
Zdroj: Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.294-5. ⟨10.1111/j.1399-0004.2010.01386.x⟩
ISSN: 0009-9163
1399-0004
DOI: 10.1111/j.1399-0004.2010.01386.x⟩
Popis: International audience
Databáze: OpenAIRE
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