47 Result(s)
within
C. Bachmann
Pediatrics
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Article
Blasenschulung bei Kindern mit funktioneller Harninkontinenz
Funktionelle Harninkontinenz (tagsüber und/oder nachts) ist ein häufiges Problem im Kindesalter. Zur Behandlung stehen verschiedene Therapieverfahren zur Verfügung. Eines davon ist die Blasenschulung mit kogni...
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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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Chapter
Hyperammonämien
Erhöhung der Ammoniakplasmakonzentration in zentraler Vene oder Arterie (nicht kapillär), über 50 umol/1 (1.–5. Tag: 150, Monat: 80–100 μmol/1)
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Chapter
Stoffwechselkrankheiten
Die verschiedenen Glykogenspeicherkrankheiten („glycogen storage disease“, GSD) sind Folge verminderter Aktivitäten unterschiedlicher Enzyme und Transportproteine des Glykogen- und Glukosestoffwechsels. Es kom...
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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
Pitfalls in aminoacid and organic acid analysis: 3-Hydroxypropionic aciduria
Pitfalls in organic acid analysis can originate from inadequate methodology, analytical interferences, in vivo interactions and from pre-analytical conditions which often are unknown to the specialized analyti...
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Article
Hartnup syndrome, progressive encephalopathy and allo-albuminaemia
Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decli...
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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
N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication
We report the 9-year follow-up of a patient suffering from N-acetylglutamate synthetase deficiency, an urea cycle disorder leading to severe neonatal hyperammonaemia. Hitherto two patients from two families wi...
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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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Article
Late-onset form of partial N-acetylglutamate synthetase deficiency
A 13-month-old female presented with neurological deterioration of 1 month duration and hyperammonaemia. N-acetylglutamate synthetase activity in the liver was reduced to 33% of the control. A male cousin and ...
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Article
Proton NMR Observation of Phenylalanine and an Aromatic Metabolite in the Rabbit Brain in Vivo
ABSTRACT: 1H nuclear magnetic resonance (NMR) was used to detect directly the signal from the aromatic protons of phenylaline (phe) in the brains of rabbits made hyperphenylalaninemic by administration of a diet ...
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Article
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings
Two siblings are reported who were syptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem examination showed steatosis of the liver, kidney and m...
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Article
Guanidino Compound Analysis as a Complementary Diagnostic Parameter for Hyperargininemia: Follow-Up of Guanidino Compound Levels during Therapy
ABSTRACT: The aim of this collaborative study was to investigate whether guanidino compound analyses in the biologic fluids can be used as a complementary diagnostic parameter for hyperargininemia. Guanidino c...
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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
Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration
In a male with a partial defect of ornithine transcarbamylase (OTC) we observed that maintenance of arginine supply was crucial for adequate metabolic control in conjunction with a low protein diet. The argini...
