Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.

Male Humans Adolescent Child Ceruloplasmin / genetics Copper / metabolism Iron / metabolism Ferritins
Aceruloplasminemia ceruloplasmin iron microcytic anemia neurotoxicity

Journal

Pediatric hematology and oncology
ISSN: 1521-0669
Titre abrégé: Pediatr Hematol Oncol
Pays: England
ID NLM: 8700164

Informations de publication

Date de publication:
2023
Historique:
medline: 11 9 2023
pubmed: 30 10 2022
entrez: 29 10 2022
Statut: ppublish

Résumé

Aceruloplasminemia inherited autosomal recessively in the

Identifiants

DOI: 10.1080/08880018.2022.2140235 PMID: 36308763
pubmed: 36308763
doi: 10.1080/08880018.2022.2140235
doi:

Substances chimiques

Ceruloplasmin EC 1.16.3.1
Copper 789U1901C5
Iron E1UOL152H7
Ferritins 9007-73-2

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

673-681

Auteurs

Veysel Gok (V)

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
ORCID: 0000-0002-7195-2688

Alper Ozcan (A)

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
ORCID: 0000-0002-6100-1205

Sinem Ozer (S)

Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.

Filiz Karaman (F)

Department of Radiology, Division of Pediatric Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Esra Aykutlu (E)

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Ebru Yilmaz (E)

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
ORCID: 0000-0003-4802-0986

Musa Karakukcu (M)

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
ORCID: 0000-0003-2015-3541

Atil Bisgin (A)

Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.
ORCID: 0000-0002-2053-9076

Ekrem Unal (E)

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Department of Molecular Biology and Genetics, Gevher Nesibe Genome and Stem Cell Institution, Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey.
Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Turkey.
ORCID: 0000-0002-2691-4826

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Aceruloplasminemia presenting with microcytic...
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Aceruloplasminemia presenting with microcytic...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Aceruloplasminemia presenting with microcytic...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Métalloprotéines › Céruloplasmine › Aceruloplasminemia presenting with microcytic...
questionsmedicales.fr › Produits chimiques inorganiques › Métaux › Métaux lourds › Cuivre › Aceruloplasminemia presenting with microcytic...
questionsmedicales.fr › Produits chimiques inorganiques › Métaux › Métaux lourds › Fer › Aceruloplasminemia presenting with microcytic...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Métalloprotéines › Protéines de liaison au fer › Ferritines › Aceruloplasminemia presenting with microcytic...