6 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... 1) Clinical diagnosis ... deficiency, ... laboratory ... hyperorality, - 25% genetic ... #Geriatrics #Workup
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
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transfusion Chorionic villus ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic ... #Laboratory #Obstetrics
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
LFTs) - Normal Values ... hepatocellular injury, genetic ... #Tests #LFTs #Laboratory ... #Values #Interpretation ... #diagnosis #hepatology
Normal Thromboelastogram - Specific parameters represent the 3 phases of the cell-based model of haemostasis: initiation,
propagation -R value ... initiation -K = kinetics ... lysis time (s) #Diagnosis ... Interpretation #Laboratory