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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
Bulut, Fatma Derya; Kor, Deniz; Kilavuz, Sebile; Seker Yilmaz, Berna; Kaplan, Irem; Ekinci, Faruk; Burgaç, Ezgi; Varol, Ilknur; Köseci, Burcu; Tug Bozdogan, Sevcan; Kara, Esra; Demir, Fadli; Deniz, Ali; Temiz, Fatih; Önenli Mungan, Neslihan.
Afiliação
  • Bulut FD; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey. Electronic address: deryaozduran@yahoo.com.
  • Kor D; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.
  • Kilavuz S; Basaksehir Çam ve Sakura City Research and Education Hospital, Pediatric Metabolism Department, Istanbul, Turkey.
  • Seker Yilmaz B; University College London, Genetics and Genomics Medicine, Institute of Child Health London, UK.
  • Kaplan I; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.
  • Ekinci F; Çukurova University, Pediatric Intensive Care Department, Adana, Turkey.
  • Burgaç E; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.
  • Varol I; Inönü University, Pediatric Gastroenterology and Hepatology Department, Malatya, Turkey.
  • Köseci B; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.
  • Tug Bozdogan S; Çukurova University, Medical Genetics Department, Adana, Turkey.
  • Kara E; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.
  • Demir F; Çukurova University, Pediatric Cardiology Department, Adana, Turkey.
  • Deniz A; Çukurova University, Cardiology Department, Adana, Turkey.
  • Temiz F; Sütçü Imam University, Pediatric Endocrinology Department, Kahramanmaras, Turkey.
  • Önenli Mungan N; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.
Eur J Med Genet ; 66(6): 104764, 2023 Jun.
Article em En | MEDLINE | ID: mdl-37061027
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Gaucher / Hepatopatias Tipo de estudo: Prognostic_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Gaucher / Hepatopatias Tipo de estudo: Prognostic_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article