NM Beck, JP Johnston, KS Lemke… - Medicine and health, …, 2011 - ncbi.nlm.nih.gov 1. Med Health R I. 2011 May;94(5):121-3. Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). Beck NM, Johnston JP, Lemke KS, Pogacar P, Phornphutkul C. ...
P Singh, JS Goraya, A Ahluwalia… - Neurology, 2011 - AAN Enterprises A 14-month-old boy presented with loss of develop- mental milestones and tonic spasms following a diar- rheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric ... Related articles - All 2 versions
JL Sloan, JJ Johnston, I Manoli, RJ Chandler… - Nature Genetics, 2011 - nature.com We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and followed up with sequencing of eight additional affected individuals (cases). This included one ...
SW Sauer, S Opp, GF Hoffmann, DM Koeller… - Brain, 2011 - Oxford Univ Press Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized in the final common catabolic pathway of l-lysine, l-hydroxylysine and l-tryptophan, leads to accumulation of neurotoxic glutaric and 3-hydroxyglutaric acid, as well as non-toxic glutarylcarnitine. ... Cited by 1 - Related articles - All 5 versions
S Mercimek-Mahmutoglu, T Tucker… - Molecular Genetics and …, 2011 - Elsevier We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9-year-old ...
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