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diagnosis pediatrics iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd algorithm endocrinology laboratory metabolicemergency patterns praderwilli syndrome
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
hepatic causes of hyperammonemia ... Reye syndrome (Peds ... #Pathophysiology ... #Hyperammonemia ... #Differential #
Non-cirrhotic Hyperammonemia - Differential Diagnosis Framework Hematologic & Vascular: • Multiple myeloma & Acute leukemia (plasma cells
Non-cirrhotic Hyperammonemia ... - Differential ... ASanchez_PS #Hyperammonemia ... #ammonia #Differential ... #Diagnosis #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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