Infantile liver pediatrics pathophysiology clinical geriatrics differential neurology genetics

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13 results

A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps

of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #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 ... 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

Nuchal Rigidity in Infantile Bacterial Meningitis

Flexion of the neck revealed nuchal rigidity. The patient was unable

Nuchal Rigidity in Infantile ... From - Journal of Pediatrics ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics ... #neurology

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Infantile Spasms on Physical Exam

#Infantile #Spasms #clinical #video #pediatrics #neurology #PhysicalExam

Infantile Spasms ... Physical Exam #Infantile ... #Spasms #clinical ... #video #pediatrics ... #neurology #PhysicalExam

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Infantile Spasms ... Physical Exam #Infantile ... #Spasms #clinical ... #video #pediatrics ... #neurology #PhysicalExam

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Infantile Spasms ... Physical Exam #Infantile ... #Spasms #clinical ... #video #pediatrics ... #neurology #PhysicalExam

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Nuchal Rigidity in Infantile ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics ... #neurology

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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

Major neurocognitive disorders (MNCD): Diagnosis and workup

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)

workup 1) Clinical ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics

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