Results 211 to 220 of about 44,570 (243)

[Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case].

Der Pathologe, 2010
Here we report the case of a newborn with glycogenosis type IV (Andersen disease), who died shortly after birth. The diagnosis was established in the first instance by light microscopy and histochemistry, and subsequently ultrastructurally. DNA could be extracted from a fibroblast cell culture by sequencing the causative GBE1 gene (glycogen branching ...
D, Rothacker, A, Winterroth, M, Buller, M, Vogel, H, Zhou, G, Kistner, G, Gillessen-Kaesbach, J, Kohlhase   +7 more
openaire   +1 more source

An adult case of andersen's disease — Type IV glycogenosis

Journal of the Neurological Sciences, 1983
I.T. Ferguson, M. Mahon, W.J.K. Cumming
openaire   +1 more source

Andersen disease

Johnson M, Stuart G: Andersen disease, 2020
openaire   +1 more source

Determinants of Healthcare Use Based on the Andersen Model: A Systematic Review of Longitudinal Studies

Healthcare (Switzerland), 2021
André Hajek, Benedikt Kretzler, Hans-Helmut König   +2 more
exaly  

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)

Klinische Pädiatrie, 2016
A, Schänzer, D, Faas, S, Rust, T, Podskarbi, A B P, van Kuilenburg, M, Scarpa, A, Kunze, T, Marquardt, A, Hahn   +8 more
openaire   +2 more sources

Liver Biopsy Diagnosis of Andersenʼs Disease

Journal of Pediatric Gastroenterology and Nutrition, 1990
Carlos Santonja, Alberto Moreno, Lucrezia Suárez, Hector Escobar   +3 more
openaire   +1 more source

G.P.1 05 The clinical spectrum of glycogen storage disease type IV (Andersen disease)

Neuromuscular Disorders, 2006
G.P. Raju, S.-C. Li, D.S. Bali, J. Anderson, K.R. McAlmon, H.B. Kim, M.M. Jonas, L.B. Smoot, Y.-T. Chen, D.K. Urion, B.T. Darras, H.G.W. Lidov, P.B. Kang   +12 more
openaire   +1 more source

Markedly Elevated Chitotriosidase Activity and Enhanced Autophagy in Neonatal Andersen Disease (Glycogen Storage Disease Type IV)

Neuropediatrics, 2016
A. Schänzer, D. Faas, Y. Shin, A. van Kuilenburg, M. Scarpa, A. Kunze, K. Zimmer, T. Marquardt, A. Hahn   +8 more
openaire   +1 more source

Andersen’s Disease 3p12

2008
openaire   +1 more source

Advantages of a Lowe-Andersen thermostat in molecular dynamics simulations

Journal of Chemical Physics, 2006
C P Lowe
exaly