Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Eberhard Mönch"'
Autor:
Yoon S. Shin, Peter Schadewaldt, Eberhard Mönch, Julia B. Hennermann, Jeannette Klein, Barbara Vetter
Publikováno v:
Journal of Inherited Metabolic Disease. 34:399-407
Galactokinase deficiency (GALK-D), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral cataract. Highest incidence of GALK-D is found
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::958543f7ce2f7dd0985ac3c807222bad
https://doi.org/10.1007/s10545-010-9270-8
https://doi.org/10.1007/s10545-010-9270-8
Autor:
Eberhard Mönch, Shimon W. Moses
The inherited disorders of carbohydrate metabolism are rare and belong to what are termed orphan diseases. With the exception of galactosaemia I, none of these diseases is among the target group of extended neonatal screening. Affected individuals wi
Autor:
Eberhard Mönch
Congenital disorders of the urea cycle are among the group of orphan diseases (i.e. rare disease) but, in this group, are among the more common disorders overall. They predominantly have clinically dramatic courses requiring interventions from intens
Autor:
Eberhard Mönch
Angeborene Störungen des Harnstoffzyklus gehören zwar zu der Gruppe der'Orphan diseases'(seltenen Krankheiten), zählen aber in dieser Gruppe insgesamt zu den häufigeren Erkrankungen. Sie zeigen mehrheitlich klinisch dramatische Verläufe, die int
Autor:
Eberhard Mönch
Publikováno v:
Deutsches Ärzteblatt international.
No one would doubt the fact that the number of patients seeking help for carbohydrate malabsorption problems has substantially risen over recent years. When asked, many patients express the opinion that they have an intolerance to fructose, whereas j
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4842454c1219f9f13f146d79d13e47c
https://doi.org/10.3238/arztebl.2014.0148a
https://doi.org/10.3238/arztebl.2014.0148a
Autor:
Barbara Vetter, Andreas E. Kulozik, Peter Bührdel, Eberhard Mönch, Elke Windt, Jörg Seidel, Claudia Wolf, Julia B. Hennermann
Publikováno v:
Human Mutation. 15:254-260
Phenylketonuria (PKU) is an important error of amino acid metabolism which results in most patients from phenylalanine hydroxylase (PAH) deficiency. PKU displays a marked genotypic heterogeneity both within and between different populations. The aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3cdb637cae1e2fef952c7866b35d63
https://doi.org/10.1002/(sici)1098-1004(200003)15:3<254::aid-humu6>3.0.co
https://doi.org/10.1002/(sici)1098-1004(200003)15:3<254::aid-humu6>3.0.co
Autor:
Eberhard Mönch, Shimon W. Moses
Die angeborenen Kohlenhydratstoffwechselstörungen sind selten und gehören alle zu den so genannten'orphan diseases'. Mit Ausnahme der Galactosämie I findet sich keine dieser Erkrankungen in der Zielgruppe des erweiterten Neugeborenenscreenings. Be
Autor:
Annabel von Arnim-Baas, Julia B. Hennermann, Sylvia Roloff, Christine Gebauer, Eberhard Mönch, Barbara Vetter
Publikováno v:
Molecular genetics and metabolism. 107(3)
Tetrahydrobiopterin (BH4) responsive phenylketonuria has been described more than 10 years ago. However, criteria for the identification of long-term BH4 responsive patients are not yet established. 116 patients with phenylketonuria, aged 4-18 years,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f77843efb998877e5a6b4211ffe9c59a
https://pubmed.ncbi.nlm.nih.gov/23062575
https://pubmed.ncbi.nlm.nih.gov/23062575
Autor:
Jutta Gellermann, Barbara Vetter, Uwe Querfeld, Elke Windt, Eberhard Mönch, Ilka Vollmer, Julia B. Hennermann, Sylvia Roloff, Ursula Plöckinger
Publikováno v:
Journal of inherited metabolic disease. 36(5)
A lifelong phenylalanine-restricted diet with supplementation of a phenylalanine-free amino acid formula is recommended in patients with phenylketonuria (PKU). The effect of a long-term PKU diet on renal function and blood pressure has not been inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b0ccc96291d37c2c3f23282f718833
https://pubmed.ncbi.nlm.nih.gov/23653227
https://pubmed.ncbi.nlm.nih.gov/23653227
Publikováno v:
Molecular genetics and metabolism. 86
Hyperphenylalaninemia caused by phenylalanine hydroxylase (PAH) deficiency requires lifelong rigorous diet starting in early infancy to prevent severe neurodevelopmental handicap. In a considerable number of children with mild hyperphenylalaninemia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f4845b20f0baf126bc6b5bbf6fa5108
https://pubmed.ncbi.nlm.nih.gov/16051511
https://pubmed.ncbi.nlm.nih.gov/16051511