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Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.
Bulut, Fatma Derya; Bozbulut, Neslihan Eksi; Özalp, Özge; Dalgiç, Buket; Mungan, Neslihan Önenli; Koç Uçar, Habibe; Biberoglu, Gürsel.
Affiliation
  • Bulut FD; Pediatric Metabolism Department, Adana City Research and Education Hospital, Adana, Turkey.
  • Bozbulut NE; Pediatric Gastroenterology and Hepatology Department, Antakya Research and Education Hospital, Antakya, Hatay, Turkey.
  • Özalp Ö; Genetics Department, Adana City Research and Education Hospital, Adana, Turkey.
  • Dalgiç B; Pediatric Gastroenterology and Hepatology Department, Gazi University, Ankara, Turkey.
  • Mungan NÖ; Pediatric Metabolism and Nutrition Department, Çukurova University, Adana, Turkey.
  • Koç Uçar H; Pediatric Neurology Department, Adana City Research and Education Hospital, Adana, Turkey.
  • Biberoglu G; Biochemistry Department, Gazi University, Ankara, Turkey.
J Pediatr Endocrinol Metab ; 35(5): 681-685, 2022 May 25.
Article in En | MEDLINE | ID: mdl-35107903
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cholestasis / Niemann-Pick Disease, Type C / Infant, Newborn, Diseases / Liver Diseases Type of study: Diagnostic_studies / Etiology_studies Aspects: Patient_preference Limits: Humans / Infant / Male / Newborn Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2022 Document type: Article Affiliation country: Turkey Country of publication: Germany
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cholestasis / Niemann-Pick Disease, Type C / Infant, Newborn, Diseases / Liver Diseases Type of study: Diagnostic_studies / Etiology_studies Aspects: Patient_preference Limits: Humans / Infant / Male / Newborn Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2022 Document type: Article Affiliation country: Turkey Country of publication: Germany