Genetic Biochemical Disorders

Biochemical Disorders in Human Disease

It is becoming increasingly apparent that most diseases are caused by biochemical abnormalities (congenital, nutritional, or acquired through the influence of outside factors such as poisons or microorganisms) and that in those where biochemical abnormalities do not primarily cause the disorder, they play an important role in its course and development. A book purporting to discuss biochemical ...

Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

CONTEXT Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program. OBJECTIVES To compare newborn identification by expanded screening with clinical identificati...

Review Clinical, Biochemical, and Genetic Features in Familial Disorders of High Density Lipoprotein Deficiency

This review assesses current knowledge of the clinical, genetic, and biochemical features of familial high density lipoprotein (HDL) deficiency syndromes. The focus is on HDL deficiency states occurring In the absence of severe hypertrlgiycerldemia or lecithin/cholesterol acyltransferase deficiency. Specific entities falling within this category Include Tangier disease, familial HDL deficiency ...

Editorial: Endophenotypes for Schizophrenia and Mood Disorders: Implications from Genetic, Biochemical, Cognitive, Behavioral, and Neuroimaging Studies

Citation: Misiak B, Frydecka D and Rybakowski JK (2016) Editorial: Endophenotypes for Schizophrenia and Mood Disorders: Implications from Genetic, Biochemical, Cognitive, Behavioral, and Neuroimaging Studies. Front. Psychiatry 7:83. doi: 10.3389/fpsyt.2016.00083 Editorial: Endophenotypes for Schizophrenia and Mood disorders: implications from Genetic, Biochemical, Cognitive, Behavioral, and Neu...