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1 . Academic Journal
Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience
저자
by
Ayşe Ergül Bozacı
;
Emine Göksoy
;
Aysel Tekmenuray Ünal
;
Hatice Mutlu Albayrak
;
İbrahim Taş
, et al.
소스
Journal of Pediatric Research, Vol 10, Iss 3, Pp 182-194 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
저자
by
Ayse Ergül Bozaci
;
Esra Er
;
Aysel Tekmenuray Ünal
;
İbrahim Taş
;
Ercan Ayaz
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100979- (2023)
Full Text (ScienceDirect)
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Scopus
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7 . Academic Journal
Outcomes of Dyslipidemia Screening Program in School-aged Children
저자
by
Engin Köse
;
Melis Köse
;
Sipil Topçu
;
Büşra Matur
;
Buket Barış
, et al.
소스
Journal of Pediatric Research, Vol 8, Iss 2, Pp 155-160 (2021)
Open Access (DOAJ)
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7 . Academic Journal
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
저자
by
Berna Seker Yilmaz
;
Julien Baruteau
;
Nur Arslan
;
Halil Ibrahim Aydin
;
Magalie Barth
, et al.
소스
Life, Vol 12, Iss 11, p 1721 (2022)
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Scopus
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7 . Academic Journal
Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis
저자
by
Ebru Canda
;
Melis Köse
;
Mehtap Kağnıcı
;
Meral Dondurmacı
;
Sema Kalkan Uçar
, et al.
소스
Journal of Pediatric Research, Vol 6, Iss 2, Pp 121-127 (2019)
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7 . Academic Journal
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
저자
by
Melis Kose
;
Ebru Canda
;
Mehtap Kagnici
;
Ayça Aykut
;
Ogün Adebali
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100657- (2020)
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Scopus
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7 . Academic Journal
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
저자
by
Ebru Canda
;
Melis Köse
;
Havva Yazıcı
;
Esra Er
;
Cenk Eraslan
, et al.
소스
Journal of Pediatric Research, Vol 5, Iss 1, Pp 39-43 (2018)
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7 . Academic Journal
A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate
저자
by
Melis Köse
;
Ebru Canda
;
Mehtap Kagnici
;
Sema Kalkan Uçar
;
Mahmut Çoker
.
소스
Case Reports in Pediatrics, Vol 2017 (2017)
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7 .
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novelsurf1−/−zebrafish deletion models of Leigh syndrome
저자
by
Suraiya Haroon
;
Heeyong Yoon
;
Christoph Seiler
;
Bruce Osei-Frimpong
;
Jie He
, et al.
소스
Human Molecular Genetics
.
Scopus
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7 .
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
저자
by
Ella F. Whittle
;
Madison Chilian
;
Ehsan Ghayoor Karimiani
;
Helga Progri
;
Daniela Buhas
, et al.
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