Thesis (Ph.D.), College of Pharmacy, Washington State UniversityThe body of this dissertation is focused on understanding the pathomechanisms and paving the way for new treatment paradigms in human metabolic disease, particularly phenylketonuria (PKU), maple syrup urine disease (MSUD), and succinic semialdehyde dehydrogenase (SSADH) deficiency. Phenylketonuria and MSUD are heritable aminoacidopathies displaying aberrant cerebral transport of large neutral aminoacids. This work presents evidence that non-physiological amino acids (NPAAs) have pharmacodynamic efficacy in selective exclusion of phenylalanine from the brain of phenylketonuric mice. Data is presented for feeding and intraperitoneal injection studies of various NPAA's including m...
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partial...
Background Phenylketonuria (PKU) was the first disorder in which severe neurocognitive dysfunction c...
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partial...
MSUD is a serious liver-based metabolic disorder caused by a deficiency in the branched-chain alpha-...
Maple syrup urine disease (MSUD) is an autosomal recessive neurometabolic disorder caused by severe ...
Methylmalonic acidurias represent a group of rare inborn errors of metabolism caused by deficient ac...
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism pr...
Summary Disorders of branched-chain amino/keto acid metabolism encompass diverse entities, including...
Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare...
Orphan metabolic diseases are rare genetic defects that interfere with metabolism due to ineffective...
BACKGROUND: Phenylketonuria treatment consists mainly of a Phe-restricted diet, which leads to subop...
g.oxfordjournals.org/ D ow nloaded from 2 Branched-chain amino acid (BCAA) metabolism plays a centra...
International audienceAbstract Maple syrup urine disease (MSUD) is a rare recessively inherited meta...
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partial...
Background Phenylketonuria (PKU) was the first disorder in which severe neurocognitive dysfunction c...
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partial...
MSUD is a serious liver-based metabolic disorder caused by a deficiency in the branched-chain alpha-...
Maple syrup urine disease (MSUD) is an autosomal recessive neurometabolic disorder caused by severe ...
Methylmalonic acidurias represent a group of rare inborn errors of metabolism caused by deficient ac...
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism pr...
Summary Disorders of branched-chain amino/keto acid metabolism encompass diverse entities, including...
Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare...
Orphan metabolic diseases are rare genetic defects that interfere with metabolism due to ineffective...
BACKGROUND: Phenylketonuria treatment consists mainly of a Phe-restricted diet, which leads to subop...
g.oxfordjournals.org/ D ow nloaded from 2 Branched-chain amino acid (BCAA) metabolism plays a centra...
International audienceAbstract Maple syrup urine disease (MSUD) is a rare recessively inherited meta...
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partial...
Background Phenylketonuria (PKU) was the first disorder in which severe neurocognitive dysfunction c...
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partial...