94 results
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Peds #Pediatrics #Inherited
Inherited Colorectal Cancer (CRS) Syndromes
Adenomatous Polyposis Syndromes:
 • Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH
Inherited Colorectal ... DeanEhrlich_MD #Inherited
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
Inherited Defects ... Tubule #Epithelial #Inherited
Summary of the management for imaging, family screening, and counseling management for inherited thoracic aortopathies. First-line
management for inherited ... #inherited #thoracic
Inherited Arrhythmia Syndromes
Entity - Prevalence / Incidence - Diagnosis - Arrhythmic Presentation - Management
 • Long
Inherited Arrhythmia ... QT Syndrome #Inherited
Inherited Qualitative Platelet Defects
Bernard-Soulier Syndrome
 • Defect of adhesion due to a lack of GP Ib/IX/V
Inherited Qualitative ... EricsMedicalLectures/ #Inherited
Inherited forms of Hyperbilirubinemia
Major pathways involved in bilirubin production, conjugation, and excretion. Notes: Both the UB
Inherited forms ... /25214800/ #Inherited
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
Inherited Non-hemolytic ... Hyperbilirubinemia #Inherited
Treatment of Bleeding in Selected Inherited Disorders of Hemostasis

#Bleeding #Disorders #HemophiliaA #HemophiliaB #Management #Table #Treatment
Bleeding in Selected Inherited
Approach to the Hypercoagulable State
Arterial thromboembolism
→ Cardiac rhythm monitoring, Echocardiogram, Vascular imaging
→ Test for APS, particularly
(Inherited thrombophilias ... Recurrent VTE → Inherited ... years of age → Inherited