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The Turkish Journal of Pediatrics
|
June 4, 2025
Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria
Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 5, 2021
Invisible burden of COVID-19: enzyme replacement therapy disruptions
Ayça Burcu Kahraman, Yılmaz Yıldız, Kısmet Çıkı, et al.
Journal of Inherited Metabolic Disease
|
August 15, 2006
Haematological findings in children with inborn errors of metabolism
Betul Tavil, Hatice Serapl Kalkanoglu Sivri, Turgay Coskun, et al.
The Turkish Journal of Pediatrics
|
August 27, 2021
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 12, 2017
Deoxyguanosine kinase deficiency: a report of four patients
Özlem Ünal, Burcu Hişmi, Mustafa Kılıç, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2020
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe
Yılmaz Yıldız, Mutluay Arslan, Gökalp Çelik, et al.
Molecular Biology Reports
|
June 16, 2025
Endoplasmic reticulum stress pathways and cellular death mechanisms in patients with phenylketonuria
Hacer Esra Gürses Cila, Ali Dursun, Neşe Vardar Acar, et al.
The Turkish Journal of Pediatrics
|
May 18, 2016
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
Özlem Ünal, R Köksal Özgül, Didem Yücel, et al.
European Journal of Radiology
|
June 3, 2019
Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital
H Nursun Ozcan, Musturay Karcaaltincaba, Emine Pektas, et al.
The Turkish Journal of Pediatrics
|
March 4, 2010
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures
Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, et al.
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of 9
Search research articles
Search
Showing results (41-50 of 88) with videos related to
Sort By:
Page
of 9
The Turkish Journal of Pediatrics
|
June 4, 2025
Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria
Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 5, 2021
Invisible burden of COVID-19: enzyme replacement therapy disruptions
Ayça Burcu Kahraman, Yılmaz Yıldız, Kısmet Çıkı, et al.
Journal of Inherited Metabolic Disease
|
August 15, 2006
Haematological findings in children with inborn errors of metabolism
Betul Tavil, Hatice Serapl Kalkanoglu Sivri, Turgay Coskun, et al.
The Turkish Journal of Pediatrics
|
August 27, 2021
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 12, 2017
Deoxyguanosine kinase deficiency: a report of four patients
Özlem Ünal, Burcu Hişmi, Mustafa Kılıç, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2020
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe
Yılmaz Yıldız, Mutluay Arslan, Gökalp Çelik, et al.
Molecular Biology Reports
|
June 16, 2025
Endoplasmic reticulum stress pathways and cellular death mechanisms in patients with phenylketonuria
Hacer Esra Gürses Cila, Ali Dursun, Neşe Vardar Acar, et al.
The Turkish Journal of Pediatrics
|
May 18, 2016
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
Özlem Ünal, R Köksal Özgül, Didem Yücel, et al.
European Journal of Radiology
|
June 3, 2019
Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital
H Nursun Ozcan, Musturay Karcaaltincaba, Emine Pektas, et al.
The Turkish Journal of Pediatrics
|
March 4, 2010
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures
Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, et al.
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of 9