3 results
genetics peds 21hydroxylasedeficiency 21ohd endocrinology hypophosphatemia phosphate praderwilli respiratory syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... , sleep apnea, cor ... pulmonale #PraderWilli ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
as males at birth ... vomiting • Late (shock ... ): cold & mottled ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Hypophosphatemia and Hypoxia - Pathophysiology ↓ Phosphate leads to ↓ red cell 2,3-DPG and a reduction
- Pathophysiology ... phosphorus is seen in COPD ... patients with COPD ... #pathophysiology ... #pulmonary
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