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Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.
J Pediatr Endocrinol Metab
January 2025
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).
View Article and Find Full Text PDFA PAS-targeting hERG1 activator reduces arrhythmic events in Jervell and Lange-Nielsen syndrome patient-derived hiPSC-CMs.
JCI Insight
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
The hERG1 potassium channel conducts the cardiac repolarizing current, IKr. hERG1 has emerged as a therapeutic target for cardiac diseases marked by prolonged actional potential duration (APD). Unfortunately, many hERG1 activators display off-target and proarrhythmic effects that limit their therapeutic potential.
View Article and Find Full Text PDFFetal Tetra-Amelia Birth: A Case Report.
Case Rep Obstet Gynecol
December 2024
Department of Obstetrics and Gynecology, Jimma University School of Medicine, Jimma, Ethiopia.
Fetal limb anomaly presentation varies greatly. It can present as amelia (complete absence of skeletal part of one or more limb), meromelia (partial absence of skeletal part of one or more limb), phocomelia (only rudimentary limb formed), and minor limb disorders like polydactyly. The complete absence of the four fetal limbs is extremely rare.
View Article and Find Full Text PDFEffectiveness of implementation of sickle cell disease referral guidelines and other measures in paediatric department at a tertiary hospital in Saudi Arabia.
BMJ Open Qual
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Pediatric Hematology Oncology, Al Hada Armed Forces Hospital, Taif, Makkah, Saudi Arabia.
Background: Sickle cell disease (SCD) is an autosomal recessive genetic blood disorder. It affects up to 2.6% of the Kingdom of Saudi Arabia population.
View Article and Find Full Text PDFRespiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.
BMJ Case Rep
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Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
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