Patients experiencing acute elevations of ammonia present to the ICU with encephalopathy,
which may progress quickly to cerebral herniation. Patient survival requires immediate …

… Author links open overlay panel JL Johnson , BE Hainline , KV Rajagopalan … Johnson,
BryanE. Hainline,+ and H20. KV Rajagopalan Absorption spectra were recorded on a Cary …

Urine metabolic profiles of patients with inborn errors of metabolism were examined with
nuclear magnetic resonance (NMR) and desorption electrospray ionization mass spectrometry (…

We report four patients with methylmalonic acidemia who developed acute extrapyramidal
disease after metabolic decompensation. The neurologic findings resulted from bilateral …

Metabolic profiling of urine provides a fingerprint of personalized endogenous metabolite
markers that correlate to a number of factors such as gender, disease, diet, toxicity, medication, …

We report a chemical derivatization method that selects a class of metabolites from a
complex mixture and enhances their detection by 13 C NMR. Acetylation of amines directly in …

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities
of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7…

Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic
shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 …

Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of the
enzyme phenylalanine hydroxylase (EC 1.14.16.1 ). Affected patients develop elevated plasma …

A patient with Prader-Willi syndrome (PWS) was found to carry a de novo balanced reciprocal
translocation, t( 15 , 19 )(q12;q13.41), which disrupted the small nuclear ribonucleoprotein …