Search Results - "Eminoğlu, Fatma T"

A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation by Yaman, Ayhan, Eminoğlu, Fatma T, Kendirli, Tanıl, Ödek, Çağlar, Ceylaner, Serdar, Kansu, Aydan, İnce, Elif, Deda, Gülhis

“…Niemann-Pick disease type C (NPC) is a fatal autosomal recessive lipid storage disease associated with impaired trafficking of unesterified cholesterol and…”
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A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature by Sevinç, Selin, İnci, Aslı, Ezgü, Fatih S., Eminoğlu, Fatma T.

“…Pontocerebellar hypoplasia (PCH) is a heterogeneous neurodevelopmental disorder that is characterized by decreased brainstem and cerebellum volume…”
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A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature by Oncul, Ummuhan, Unal-Ince, Elif, Kuloglu, Zarife, Teber-Tiras, Serap, Kaygusuz, Gulsah, Eminoglu, Fatma T.

“…Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition…”
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Co-Occurring Atypical Galactosemia and Wilson Disease by Doğulu, Neslihan, Kose, Engin, Tuna Kirsaçlioğlu, Ceyda, Ezgü, Fatih S., Kuloğlu, Zarife, Kansu, Aydan, Eminoglu, Fatma T.

“…Introduction: Classic galactosemia is a disorder of the galactose metabolism and is inherited as an autosomal recessive disease. It is caused by a complete or…”
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Gaucher disease type 3: Variability in phenotype among siblings with same mutation by Eminoglu, Fatma T., Öncül, Ummühan

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Case presentation: A girl with cholesterol ester storage disease by Eminoglu, Fatma T., Bolkent, Musa Gökalp, Kuloglu, Zarife, Kansu, Aydan

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A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature by Sevinç, Selin, İnci, Aslı, Ezgü, Fatih S, Eminoğlu, Fatma T

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Mucolipidosis type II (I-cell disease) with pulmonary hypertension and difficult airway by Eminoglu, Fatma T., Yaman, Ayhan, Kendirli, Tanıl, Odek, Caglar, Ucar, Tayfun

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Co-Occurring Atypical Galactosemia and Wilson Disease by Doğulu, Neslihan, Kose, Engin, Tuna Kirsaçlioğlu, Ceyda, Ezgü, Fatih S, Kuloğlu, Zarife, Kansu, Aydan, Eminoglu, Fatma T

“…IntroductionClassic galactosemia is a disorder of the galactose metabolism and is inherited as an autosomal recessive disease. It is caused by a complete or…”
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