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Article
Increased NO production in lysinuric protein intolerance
Lysinuric protein intolerance (LPI) is a disorder of dibasic amino acid transport secondary to mutation of the SLC7A7 gene characterized by renal failure, pulmonary alveolar proteinosis, lupus-like autoimmune sym...
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Article
Satellite meeting on Advances in Inherited Urea Cycle Disorders. Recent results – new questions
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Article
Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome
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Article
3-Hydroxyisobutyric aciduria with a mild clinical course
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Article
Ornithine carbamoyl transferase deficiency: Findings, models and problems
The initial clinical symptoms of ornithine carbamoyl transferase deficiency depend on the age of onset. Respiratory distress on the first day of life does not allow exclusion of OCT deficiency in the individua...
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Article
PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders
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Article
Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis
The use of restriction fragment length polymorphism studies for prenatal exclusion of OTC deficiency in a carrier mother is reported.
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Chapter
Urea Cycle Disorders
Patients with urea cycle disorders can present with symptoms from birth to adulthood, depending on the degree of enzyme defect and nitrogen load. Levels of ammonia in the blood should be determined in any newb...
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Article
3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency
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Article
Laryngeal stridor as a leading symptom in a biotinidase-deficient patient
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Article
N-acetylglutamate synthetase deficiency, a second patient
A second patient withN-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after dea...
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Article
β-Ketothiolase deficiency with favourable evolution
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Article
Ornithine transcarbamylase variant in a male patient
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Article
Atypical non-ketotic hyperglycinaemia
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Article
Biotinidase deficiency: metabolites in CSF
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Article
Biotinidase deficiency: Clinical course and biochemical findings
The biotin responsive late-onset multiple carboxylase deficiency (McKusick 25327) has recently been shown to be due to biotinidase deficiency (EC 3.5.1.12; Wolfet al., 1983a). This affects the regeneration of bio...
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Article
Incidence of disorders tested by systematic screening: Confidence limits and comparison of programmes
Using the data from screening done in Switzerland since 1965, we showed that the probability of finding cases with increased phenylalanine or leucine concentrations is compatible with a Poisson distribution. I...
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Article
Glucose metabolism in a child with 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency
A child with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency suffered from fasting hypoglycaemia and impaired ketone body formation.