Measurement of the serum uric acid level, most commonly considered in adult patients, is
frequently obtained inadvertently for pediatric patients because it is a standard component of …

The link between branched-chain amino acids (BCAAs) and obesity has been known for
decades but the functional role of BCAA metabolism in white adipose tissue (WAT) of obese …

Recent application of the tools of molecular biology has provided insight with respect to the
structure, regulation, and defects of the genes encoding the PDC and the BCKADC. cDNAs …

Branched chain amino acids (BCAAs) play critical roles in cell and tissue functions in
addition to being important components of protein structure. The multifunctional roles speak …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Maple syrup urine disease (MSUD) is an inherited disorder caused by deficiency of
branched-chain l-2-keto acid dehydrogenase complex activity. Affected patients present …

Neural cell death has a pivotal role in both the development and pathophysiology of the
nervous system. Two distinct modes of cell death—necrosis and apoptosis—are involved in …

Abstract Back Cover Copy This third edition of The Genetics of Neurological Disorders
incorporates the recent advances in genetics and molecular genetics into this …

Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and
often leads to neonatal death. Newborn-screening programs, coupled with the use of protein …

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