Publications by authors named "H N O Mungan"
Article Synopsis
- Phenylketonuria (PKU) is a genetic condition where too much phenylalanine (Phe) builds up in the body, which can be harmful to the brain.
- The APHENITY study tested a new medicine called synthetic sepiapterin to see if it could safely lower Phe levels in patients with PKU.
- The study involved 187 participants from 34 locations around the world and lasted from September 2021 to April 2023, with results showing how effective the treatment was over a six-week period.
Objective: Geriatric cancer population is growing. Both cancer and geriatric conditions are associated with some degree of inflammatory burden. To comprehensively present our five years of experience in patients with suspicion of a malignancy, signs and symptoms that are more prominent as indicator of malignancies, conditions that cause malignancy-like symptoms, and common malignancies and newly diagnosed malignancies in geriatric patients with a history of cancer.
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- A study was conducted to assess the immune response and COVID-19 progression in 110 patients with lysosomal storage disorders (LSDs), most of whom were on enzyme replacement therapy (ERT).
- Findings revealed that over half of these patients exhibited abnormalities in their immune system, with lower levels of certain immunoglobulins and issues in lymphocyte counts, indicating a potential greater vulnerability to illnesses like COVID-19.
- Despite various autoimmune markers being identified in some patients, there were no strong clinical symptoms linking these lab findings to illnesses, except for a specific case of Hashimoto thyroiditis in a patient with Gaucher disease.
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 PDFBackground: This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density).
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