JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Inborn errors of metabolism are becoming increasingly recognised as cause of acute illness as well as chronic disease especially in childhood. However, the large number of genetic defects in various biochemical pathways makes it difficult to be familiar with the differential diagnosis and treatment of affected patients. With this in mind, the Vademecum Metabolicum offers practical guidance to the clinician in particular in general practice. In a concise form the manual provides information on the diagnosis and management of more than 200 metabolic diseases. The first part describes the clinical approach to metabolic problems common in everyday practice, provides indications and instructions for all relevant metabolic investigations as well as extensively describing the most important metabolic function tests. The second part explains the individual metabolic pathways and their disorders in detail. Clinical charcteristics, diagnostic approach and the basis of therapy are discussed for all groups of diseases as well as for individual defects. The Vademecum Metabolicum provides a unique bridge between the clinician in a busy consulting room or ward and the metabolic specialist.