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diagnosis pediatrics metabolism causes iem inbornerrors neonatology nicu table 21hydroxylasedeficiency 21ohd congenital developmentaldelay diseases disorders endocrinology hyperammonemia inherited ketones laboratory
Simplified Diagnosis of Metabolic Disorders #Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Disorders #Diagnosis #Peds ... Disorders #Ketones #Ammonia ... #Differential # ... Algorithm
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
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
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
major sources of ammonia ... production of ammonia ... Reye syndrome (Peds ... #Pathophysiology ... Hyperammonemia #Differential
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
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Diagnosis #Algorithm ... #Causes #Peds #
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
Causes of Male Infertility - Differential Diagnosis Algorithm Sperm Transport: • Vasectomy • Cystic fibrosis gene mutation
Causes of Male Infertility ... - Differential ... Diagnosis Algorithm ... High FSH/LH: • Genetic ... #Differential #
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