Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Objective: Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed.

Nocturnal river water temperatures: Spatial and temporal variations.

Nocturnal water temperature (Tw) affects the behaviour of aquatic biota and metabolism of whole rivers. However, night-time water temperature (nTw) is poorly understood because spot samples are typically taken during daylight hours, or Tw series are aggregated in ways that mask sub-daily properties. This paper examines 15-minute measurements of Tw and air temperature (Ta) collected at 36 sites in the Rivers Dove and Manifold, English Peak District.

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.

Objectives: To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1).

Design And Methods: Samples of liver and/or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH1. Using a panel of selected mutations, DNA was examined in 64 cases, of which 36 had the diagnosis of PH1 confirmed by liver AGT assay.

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

We describe nine novel mutations and polymorphisms occurring on the major allele of the human alanine:glyoxylate aminotransferase gene in patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.