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Journals and Conferences
This paper reports clinical and metabolic studies of two Italian siblings with a novel form of persistent isolated hypermethioninaemia, i.e. abnormally elevated plasma methionine that lasted beyond the first months of life and is not due to cystathionine β-synthase deficiency, tyrosinaemia I or liver disease. Abnormal elevations of their plasma… (More)
We performed Ussing chamber experiments on cultured human bronchial epithelial cells to look for the presence of electrogenic dibasic amino acid transport. Apical but not basolateral L-arginine (10-1, 000 microM) increased the short-circuit current. Maximal effect and EC50 were approximately 3.5 microA/cm2 and 80 microM, respectively, in cells from normal… (More)
The molybdenum cofactor is essential for the function of three enzymes: sulphite oxidase (SO; EC 220.127.116.11), xanthine oxidase (XO; EC 18.104.22.168) and aldehyde oxidase (EC 22.214.171.124). Combined SO and XO deficiency (McKusick 252150) is an autosomal recessive disorder (Johnson and Wadman 1995) which has been reported in 33 patients. At birth it is characterized by… (More)
Researchers of the Department of Information Technologies of the University of Milano and of the Stem Cells Research Institute of the DIBIT-S. Raffaele Milano are experimenting the growth of human neural networks of stem cells on a MEA (Microelectrode Array) support. The Microelectrode arrays (MEAs) are constituted by a glass support where a set of tungsten… (More)
Availability of early diagnosis and early treatment is fundamental to the prevention of neurological damage in patients affected by metabolic disorders with neonatal expression. While plasma amino acid (AA) measurements accordingly provide fundamental clues to early diagnosis of inborn errors of AA metabolism, more information concerning the trends of… (More)
We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20 mg/kg/day) in… (More)
A female patient with tyrosinaemia type II is reported having undergone two untreated pregnancies. During pregnancies, plasma tyrosine was raised. The outcomes of both offspring show that maternal tyrosinaemia may have an adverse effect on the developing fetus.
We report on a child with a clinical and neuroradiological picture consistent with Leigh disease and an unusual association of isolated hypermethioninaemia and 3-methylglutaconic aciduria. A low-methionine diet normalized both plasma methionine and urine 3-methylglutaconic acid; a methionine-loading test led to significant increase of both metabolites. In… (More)
This report describes the case of a boy with prolidase deficiency who presented with splenomegaly and leg ulcers. Laboratory examination revealed hypergammaglobulinaemia, hyperimmunoglobulinaemia E, increased erythrocyte sedimentation rate, elevated transaminases, positive antinuclear and anti-double-stranded DNA antibodies, and complement consumption. No… (More)
Summary: A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic lesions.