Publications by authors named "Emine İpek Ceylan"
Article Synopsis
- Biotin is a water-soluble vitamin essential for carboxylation, and its deficiency (biotinidase deficiency, BD) can be classified as partial or profound depending on serum enzyme activity levels.
- A study involving 302 patients in eastern Türkiye assessed various factors such as age, family history, and genetic mutations related to BD, with the majority diagnosed through neonatal screening.
- The research identified 306 variants of the BTD gene, with the most common genetic mutations being c.410G>A (p.Arg137His) and c.1270G>C (p.Asp424His), and specific genotypes were linked to more severe deficiency symptoms.
Objectives: Phenylalanine hydroxylase (PAH) is predominantly a hepatic enzyme that catalyzes phenylalanine (Phe) into tyrosine, which is the rate-limiting step in Phe catabolism. Biallelic variants in the gene cause PAH enzyme deficiency. Phenylketonuria (PKU) is an autosomal recessive disorder that causes neurologic, behavioral, and dermatological findings.
View Article and Find Full Text PDFBackground: Hereditary bone marrow failure syndromes are a category of biologically different syndromes that can cause cytopenia in at least one hematopoietic cell lineage.
Case: We present a 29-week-old male infant who had a low Apgar Score, advanced delivery room resuscitation, widespread petechial rash, and ecchymoses at birth, without any dysmorphic features. Initial laboratory tests revealed bicytopenia (platelet count 7x10 3 /uL, hemoglobin of 3.
Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c.
View Article and Find Full Text PDFPurpose: To investigate vitamin D receptor polymorphisms in ocular surface squamous cell neoplasm and to evaluate the relationship between the identified polymorphisms and susceptibility to ocular surface squamous cell neoplasm and the clinical course.
Materials And Methods: A totala of 70 patients with ocular surface squamous cell neoplasm (study group) and 75 healthy age and gender-matched individuals (control group) were included in the study. Vitamin D receptor FokI and BsmI polymorphisms were examined.