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Article
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b
Neutropenia and/or neutrophil dysfunction are part of glycogen storage disease type 1b (GSD1b) phenotype. Recent studies indicated that activation of apoptosis and increased reactive oxygen species are implica...
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Article
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associ...
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Article
Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings
In mucopolysaccharidoses, upper airway obstruction has multiple causative factors and progressive respiratory disease may severely affect morbidity and mortality. In a cross-sectional study over 2 years we eva...
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Article
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation
We report a 3-year-old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonae...
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Article
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis characterized by developmental delay and multiple malformations.Some of the patients have skin photosensitivity and therefore te...
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Article
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
N-Butyldeoxynojirimycin (NB-DNJ, miglustat 'Zavesca') is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical.....
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Article
Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum?
Homocystinuria due to cystathionine β-synthase (CBS) deficiency is an autosomal recessive disease of sulphur amino acid metabolism. Major clinical manifestations include disorders of the eye, the skeleton, th...
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Article
Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
Phenylketonuria (PKU) is an autosomal recessive disease caused by the deficiency of a liver-specific enzyme, phenylalanine hydroxylase (PAH). The pattern of PAH mutations in Mediterranean populations appears t...
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Article
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations
Fasting and post-methionine load plasma total homocysteine concentrations were investigated in the parents of two homocystinuric patients. Three genetic mutations in the cystathionineβ-synthase gene were found. I...
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Article
Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
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Chapter
Homocystinuria Due to Cystathionine β-Synthase Deficiency and Related Disorders
Several enzyme defects have been ascertained in the conversion of the sulfur-containing amino acid methionine into cysteine (Fig. 1). Some of these enzyme defects have been detected in asymptomatic subjects an...
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Article
Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine
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Chapter
Disorders of the Sulfur-Containing Amino Acids
Homocystinuria due to cystathionine-β-synthase (CBS) deficiency is the most common genetic defect of the sulfur-containing amino acids, transmitted as an autosomal recessive trait. The typical abnormalities invol...
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Article
Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia
We have investigated thiamine metabolism and transport in the erythrocytes of two patients from unrelated families with thamine responsive megaloblastic anaemia associated with diabetes mellitus and sensorineu...
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Article
Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of eith...
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Article
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency
Immunologically cross-reacting material to antibodies against steroid sulphatase has not been found in fibroblasts from patients with steroid sulphatase deficiency.
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Article
CLINICAL SPECTRUM AND MOLECULAR BASIS OF STEROID SULPHATASE DEFICIENCY
A deficiency of steroid sulphatase (STS) is the basic defect of X-linked iohthyosis (XLI) (I). We examined 21 Italian patients with STS deficiency belonging to 14 unrelated families. The patients studied were ...
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Article
Evidence of polyglandular involvement in Niemann-Pick disease type B
We report a girl with Niemann-Pick disease type B in whom short stature was recorded over a long period. Association of short stature with the presence of a polyglandular involvement in this patient is discussed.
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Article
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency
We measured protein-bound plasma homocyst(e)ine in 15 normal adult subjects and nine heterozygotes for homocystinuria due to cystathionine β-synthase deficiency. The mean (±SD) concentrations obtained in the t...
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Article
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia....
