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diagnosis peds differential iem inbornerrors metabolism nicu table 21hydroxylasedeficiency 21ohd algorithm alzheimersdisease classification endocrinology laboratory lewybody metabolicemergency mncd patterns praderwilli
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Differential #Neonatology ... #Peds #Pediatrics
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 ... InbornErrors #Metabolism #Neonatology ... #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Lewy Body Dementia: Pathogenesis and Clinical Findings Lewy Body Dementia is a sub-category of major or mild
Lewy Body Dementia ... Pathogenesis and Clinical ... Clinical manifestations ... #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
workup 1) Clinical ... atrophy Lewy body dementia ... Frontotemporal dementia ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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