Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Autor: Matthias R. Baumgartner, Eva Morava, A. M. Das, S. Geb, J. B.C. deKlerk, Nathalie Guffon, Martin Lindner, Olaf Bodamer, E. Müller, Tamaris Zwickler, Stefan Kölker, Alberto Burlina, U. Wendel, E. M. Maier, Frits A. Wijburg, John H. Walter, Gülden Gökçay, Stephanie Grunewald, Friederike Hörster, Bernd Schwahn, H. I. Aydin

Publikováno v: Journal of Inherited Metabolic Disease, 31, 3, pp. 361-7
Journal of inherited metabolic disease, 31(3), 361-367. Springer Netherlands
Journal of Inherited Metabolic Disease, 31, 361-7
Journal of Inherited Metabolic Disease, 31, 361-367. Springer Netherlands

Contains fulltext : 70060.pdf (Publisher’s version ) (Closed access) The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal failure and metabolic stroke.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f7483123521d31b63380cf513b08aa
https://doi.org/10.1007/s10545-008-0804-2

Lung function of school children with low levels of alpha1-antitrypsin and tobacco smoke exposure

Autor: David Carr, Thomas Hirsch, O S von Ehrenstein, W Schaal, B Olgemöller, S. K. Weiland, Thomas Nicolai, E. von Mutius, A A Roscher, E M Maier

Publikováno v: The European respiratory journal. 19(6)

Exposure to environmental tobacco smoke (ETS) and other air pollutants has been associated with small decrements in lung function. The susceptibility to pollution exposure may, however, vary substantially between individuals. Children with an impaire

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b075d29499c62b97e18bb8bf88d9683
https://pubmed.ncbi.nlm.nih.gov/12108863

First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome.

Autor: S. Strenge, U. G. Froster, R. J. A. Wanders, J. Gartner, E. M. Maier, A. C. Muntau, R. Faber

Publikováno v: Prenatal Diagnosis; 2/29/2004, Vol. 24 Issue 2, p151-153, 3p

[The development of children following intra-uterine transfusions in severe Rh-erythroblastosis (author's transl)]

Autor: G, Schellong, D, Palm, E M, Maier-Becker, K, Quakernack

Publikováno v: Zeitschrift fur Geburtshilfe und Perinatologie. 181(1)

The development of 18 children who had received 1--3 intra-uterine transfusions (IUT) because of severe Rh-erythroblatosis was followed over the first few years of life and finally checked when they were 2--6 years old. All of them were premature, 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::72542e68103a73ebb9e7de547ea5aa46
https://pubmed.ncbi.nlm.nih.gov/848077