Inherited neuromuscular disorders: Pathway to diagnosis

the laboratory diagnosis of inherited metabolic disorders

diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...

Inherited platelet disorders: toward DNA-based diagnosis.

Variations in platelet number, volume, and function are largely genetically controlled, and many loci associated with platelet traits have been identified by genome-wide association studies (GWASs).(1) The genome also contains a large number of rare variants, of which a tiny fraction underlies the inherited diseases of humans. Research over the last 3 decades has led to the discovery of 51 gene...

Diagnosis and Management of Inherited Platelet Disorders.

In clinical daily practice the definition of a bleeding tendency is rather subjective. Clinical manifestations usually include hematoma, epistaxis, menorrhagia, and severe bleeding episodes after surgery or injuries. The most common causes are disorders of primary hemostasis that occur sometimes due to platelet function disorders. Inherited thrombocytopathies are much less frequent in compariso...

Recombinant DNA techniques in the diagnosis of inherited disorders.

Clinical and Laboratory Diagnosis of Inherited Platelet Function Disorders.

In the present issue of TRANSFUSION MEDICINE AND HEMOTHERAPY current strategies for the diagnosis of inherited platelet function disorders that have been established in different clinics in the German-speaking countries are summarized. These strategies are partially related to diagnostic algorithms applied in Italy or the UK [1, 2]. Inherited platelet function disorders represent a heterogeneou...