End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation

Autor: Jan Peter Rake, Joachim J. Schweizer, Dirk Reijngoud, Mjh Slooff, van FrancJan Spronsen, de Koert Jong, Cma Bijleveld, Gepke Visser, Gerrit Smit, Klaziena Niezen-Koning, Pmjg Peeters, Wim Ruitenbeek

Publikováno v: European Journal of Pediatrics, 159, 523-526
European Journal of Pediatrics, 159, pp. 523-526

The prerequisite for liver transplantation as a therapeutic option for inherited metabolic diseases should be that the enzyme defect, being responsible for the major clinical (hepatic and/or extra-hepatic) abnormalities, is localised in the liver. Fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b3dfa373eca04269a8f58850c1b47de
https://hdl.handle.net/2066/184468

Partial hypoxanthine–guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion

Autor: O. P. van Diggelen, Dirk Reijngoud, Klaziena Niezen-Koning, L. J. W. M. Pierik, van FrancJan Spronsen, C. M. L. van Dael

Publikováno v: Molecular Genetics and Metabolism, 90(2), 221-223. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 90(2), 221-223. Academic Press

Partial hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency, also known as the Kelley-Seegmiller syndrome, can give rise to a wide range of neurological symptoms, and renal insufficiency. Biochemically, it is characterized by high uric

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15fb3ddd0975efc86d691fe10fba0d4b
https://doi.org/10.1016/j.ymgme.2006.10.011

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

Autor: van FrancJan Spronsen, Ron A. Wevers, Saskia B. Wortmann, Helen Michelakakis, B. Chan Lim, Gert Matthijs, Maciej Adamowicz, Eckhard Korsch, Dirk J. Lefeber, Klaziena Niezen-Koning, Renate Zeevaert, Thatjana Gardeitchik, Maïlys Guillard, Eva Morava, Dorus Kouwenberg, Miski Mohamed, Berthold Koletzko, Eliška Marklová, Sebahattin Cirak

Publikováno v: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 691-8
Biochimica et biophysica acta-Molecular basis of disease, 1812(6), 691-698. ELSEVIER SCIENCE BV
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 691-8
Biochimica et Biophysica Acta-Molecular Basis of Disease
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2011, ⟨10.1016/j.bbadis.2011.02.011⟩

Dysmorphic features, multisystem disease, and central nervous system involvement are common symptoms in congenital disorders of glycosylation, including several recently discovered Golgi-related glycosylation defects. In search for discriminative fea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10840f1328696369bf1cd44cd1f34e82
https://hdl.handle.net/2066/95723

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

Autor: Huanming Yang, Jens Jacob Hansen, Jakob S. Hansen, Marit Nyholm Nielsen, Peter Bross, Zhijie Li, Costa Georgopoulos, Jytte Banner Lundemose, Lars Bolund, Hans Eiberg, Niels Gregersen, Steen Kølvraa, Klaziena Niezen-Koning, Thomas J. Corydon, Debbie Ang

Publikováno v: Bross, P, Li, Z, Hansen, J, Hansen, J J, Nielsen, M N, Corydon, T J, Georgopoulos, C, Ang, D, Lundemose, J B, Niezen-Koning, K, Eiberg, H, Yang, H, Kølvraa, S, Bolund, L & Gregersen, N 2007, ' Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential ', Journal of Human Genetics, vol. 52, no. 1, pp. 56-65 . https://doi.org/10.1007/s10038-006-0080-7
Bross, P, Li, Z, Hansen, J, Hansen, J J, Nielsen, M N, Corydon, T J, Georgopoulos, C, Ang, D, Lundemose, J B, Niezen-Koning, K, Eiberg, H, Yang, H, Kølvraa, S, Bolund, L & Gregersen, N 2006, ' Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential ', Journal of Human Genetics, vol. 52, no. 1, pp. 56-65 . https://doi.org/10.1007/s10038-006-0080-7
Journal of human genetics, 52(1), 56-65. Nature Publishing Group

Udgivelsesdato: 2007-null Molecular chaperones assist protein folding, and variations in their encoding genes may be disease-causing in themselves or influence the phenotypic expression of disease-associated or susceptibility-conferring variations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b8edf51975f190c8129faed9ffd022
https://portal.findresearcher.sdu.dk/da/publications/4c1c48f0-d61d-11dc-860c-000ea68e967b

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

Autor: Jan Peter Rake, A M ten Berge, Klaziena Niezen-Koning, Gepke Visser, Chcm Buys, Hans Scheffer, E Verlind, Gerrit Smit

Publikováno v: European Journal of Pediatrics, 159(5), 322-330. SPRINGER

We studied the glucose-6-phosphatase (G6Pase) gene of 30 unrelated glycogen storage disease type Ia (GSD Ia) patients using single strand conformation, polymorphism (SSCP) prior to automated sequencing of exons revealing an aberrant SSCP pattern. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbc8bbb801270291fa7c62e58b26c172
https://research.rug.nl/en/publications/9ea24e3e-fec1-448d-aabd-10c5ac5270f6