Differential Diagnosis by Laboratory Medicine

Methylmalonic Acidemia Diagnosis by Laboratory Methods

Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...

Differential Diagnosis in Internal Medicine - ReadingSample

Laboratory diagnosis of thrombocytopenia

Thrombocytopenia is observed in different clinical situations as inherited and acquired forms. Intracranial bleeding is major life threatening of severe thrombocytopenia. Thrombocytopenia, peripheral blood findings and chromosomal study have opened new insight for correct diagnosis and treatment.

Laboratory diagnosis of fungal infections

Selection of appropriate specimens for culture and microscopic examination is based on the results of clinical and radiographic examination and consideration of the most likely fungal pathogen that may cause such an infection. Specimens should be collected under aseptic conditions or after appropriate cleaning and decontamination of the collection site and rapidly transported to the clinical my...

Clinical Diagnosis by Laboratory Examinations

This-work may be regarded as a companion volume of Kolmer and Boerner's Applied Laboratory Technique. Hence, details of procedure are for the most part not given, except for an appended section of 140 pages which will undoubtedly prove valuable for those not having ready access to the previous elaborate text. The subject matter is treated from two points of view, mutually complementary. In the ...