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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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Articles 1 - 3 of 3
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee
Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee
Gulf Coast Division Research Day 2024
No abstract provided.
A Rare Case Of Von Gierke Causing Severe Aortic Stenosis, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle
A Rare Case Of Von Gierke Causing Severe Aortic Stenosis, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle
North Texas Research Forum 2023
Von Gierke disease is an inherited Glycogen Storage disease - type 1 resulting from deficiencies in the specific enzymes glucose 6 phosphatase(1a), and/or glucose 6 phosphate translocase(1b) glycogen metabolism pathway. Von Gierke disease is commonly seen in the pediatric population and is known for his hepatic and renal manifestations. Here we discuss a rare case of Von Gierke’s disease causing some rare cardiac manifestations. 41yo M with PMHx significant for Von Gierke type 1a, HFrEF complicated by VT s/p ICD, HTN who presented for complaints of continued SOB with new muscle soreness. On arrival, lactic acid was elevated at 5.2, …
A Sudden Fall: Hypokalemic Familial Thyrotoxic Periodic Paralysis, Haroutiun Hamzoian, Aswin Srinivasan, Reuben Plasencia, Branden Wilson, Rajeev Raghavan
A Sudden Fall: Hypokalemic Familial Thyrotoxic Periodic Paralysis, Haroutiun Hamzoian, Aswin Srinivasan, Reuben Plasencia, Branden Wilson, Rajeev Raghavan
Gulf Coast Division Research Day 2022
No abstract provided.