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diagnosis algorithm iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd age developmentaldelay endocrinology hyperammonemia hypertension laboratory metabolicemergency patterns praderwilli secondary
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
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
although hepatic causes ... namely, the many causes ... Reye syndrome (Peds ... #Pathophysiology ... Hyperammonemia #Differential
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
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
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... Diagnosis #Algorithm #Causes ... #Peds #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Age Distribution of Hypertension Etiologies < 1 month - Renal arterial thrombosis - Congenital renal disease -
- Mendelian genetic ... #Hypertension #Causes ... Secondary #diagnosis #differential ... #age #pediatrics ... #peds
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