Výsledky vyhledávání - "J. B. Hennermann"

Akademický článek

PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL

Publikováno v: HemaSphere, Vol 6, Pp 2183-2184 (2022)

Externí odkaz: https://doaj.org/article/8b6bf652816a4800bab60bfbd934da9b

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Entwicklung neuer Therapien für seltene Erkrankungen

Autor: J. B. Hennermann

Publikováno v: Monatsschrift Kinderheilkunde. 165:226-233

Lysosomale Speichererkrankungen („lysosomal storage disorders“, LSD) gehoren mit einer Gesamtinzidenz von 1:7500 zu den seltenen Erkrankungen. Klinisch charakteristisch fur LSD sind Organomegalie, muskuloskeletale Symptome, Neurodegeneration und

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c1424ead3fca5a443ed8b4de77989759
https://doi.org/10.1007/s00112-016-0231-7

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Motor Development in Infantile Pompe Disease

Autor: S, Gökce, N, Karabul, J B, Hennermann, E, Mengel

Publikováno v: Journal of neuromuscular diseases. 2(s1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3bb83dc90ed8616bc82f8c149a59e49d
https://pubmed.ncbi.nlm.nih.gov/27858615

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Mikrozephalus und megaloblastäre Anämie als Leitsymptome einer seltenen angeborenen Störung des intrazellulären Kobalamin-Processings - 3 Kasuistiken

Autor: J B Hennermann, G Horneff, P Müller

Publikováno v: Klinische Pädiatrie. 219:361-367

INTRODUCTION Defects of methionine synthase or methionine synthase reductase result in an impaired remethylation of homocysteine to methionine. Patients present with megaloblastic anemia, failure to thrive and various neurological manifestations incl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5dc0837ca0282a2702142fae49663415
https://doi.org/10.1055/s-2007-973067

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[Thromboembolic events, abortions and a sick infant--unusual presentation of a vitamin deficiency]

Autor: I, Sturm, J B, Hennermann, A, von Arnim-Baas, P H, Driever, G, Massenkeil

Publikováno v: Der Internist. 49(12)

Homocysteine is a risk factor for the development of thromboembolic disorders and vascular diseases. Furthermore, complications during pregnancy have been ascribed to hyperhomocysteinemia. We report on a pregnant woman being substituted by high doses

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::90f15b5786b5902b659a438bf84159ad
https://pubmed.ncbi.nlm.nih.gov/18815762

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[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]

Autor: P, Müller, G, Horneff, J B, Hennermann

Publikováno v: Klinische Padiatrie. 219(6)

Defects of methionine synthase or methionine synthase reductase result in an impaired remethylation of homocysteine to methionine. Patients present with megaloblastic anemia, failure to thrive and various neurological manifestations including mental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::94ee4325230d71ef0ccd1efc729481c5
https://pubmed.ncbi.nlm.nih.gov/18050048

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Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: effects of therapy

Autor: F. Asskali, W. März, J. B. Hennermann, Hansjosef Böhles, J. Herwig

Publikováno v: European journal of pediatrics. 157(11)

In 71 children with familial hypercholesterolaemia the effect of dietary and/or medical treatment was evaluated. Initial total cholesterol and low density lipoprotein (LDL)-cholesterol levels were significantly lower in children who were consecutivel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51873dd9256deaeb0f8caaa4214861fa
https://pubmed.ncbi.nlm.nih.gov/9835436

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