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Open AccessOgilvie syndrome after cesarean section
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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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PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders
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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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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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3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency
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Laryngeal stridor as a leading symptom in a biotinidase-deficient patient
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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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Ornithine transcarbamylase variant in a male patient
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Article
Enzymology of human myometrium: Variations related to the hormonal milieu
The activities of various enzymes involved in glycolysis, tricarboxylic acid cycle and fatty acid oxidation were assayed in human myometrium. A gradient of the activities from fundal to cervical myometrium was...
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Article
Atypical non-ketotic hyperglycinaemia
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20. In-vitro-Prüfung des plazentaren Transfers von Medikamenten Beispiel: Acyclovir
Am Modell der In-vitro-Perfusion des isolierten Kotyledo der menschlichen Plazenta am Termin wurde der Transfer von Acyclovir, einem gegen Herpes-simplex-Virus wirksamen Guaninderivat, geprüft. Die Plazentapas...
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Article
Biotinidase deficiency: metabolites in CSF
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Activities in the placenta and fetal membranes of enzymes involved in energy metabolism
The placenta and the fetal membranes differ in their energy dependent functions and in their blood supply. In a search for quantitative differences in the expression of enzymes involved in energy metabolism in...
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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...