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Publikováno v:
Proceedings of the National Academy of Sciences. 95:13200-13205
Deficiency of dolichyl- P -Glc:Man 9 GlcNAc 2 - PP -dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V). Clinically this type resembles the classical type Ia of CDGS caused by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7250e4c384afae4617cadc8fe80731e3
https://doi.org/10.1073/pnas.95.22.13200
https://doi.org/10.1073/pnas.95.22.13200
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 58:55-62
Carbohydrate-deficient glycoprotein syndrome type I (CDGS I) is an autosomal recessive disease with multiple organ manifestations. The diagnostic biochemical marker has been typical carbohydrate-deficient isoforms of transferrin (Tf). Many other glyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8426fb33b386dc07c941c0bd288f74ee
https://doi.org/10.1080/00365519850186832
https://doi.org/10.1080/00365519850186832
Autor:
U. Holzbach, Jens Frahm, Folker Hanefeld, Sylvia Stockler, Gunther Helms, I. Marquardt, Wolfgang Hänicke, Martin Requart
Publikováno v:
Pediatric Research. 36:409-413
In a patient with extrapyramidal movement disorder and extremely low creatinine concentrations in serum and urine, in vivo proton magnetic resonance spectroscopy disclosed a generalized depletion of creatine in the brain. Oral substitution of arginin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc68b5c9186afb9f096a49d6147c890b
https://doi.org/10.1203/00006450-199409000-00023
https://doi.org/10.1203/00006450-199409000-00023
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 95(22)
Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V). Clinically this type resembles the classical type Ia of CDGS caused by the defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::499c73a4faa1d1306e649a0485f227f5
https://pubmed.ncbi.nlm.nih.gov/9789065
https://pubmed.ncbi.nlm.nih.gov/9789065
Publikováno v:
Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 7(2)
Carbohydrate-deficient glycoprotein (CDG) syndrome type I is an autosomal recessive disease with multisystemic manifestations. During childhood the patients may suffer from hemorrhages, which may be lethal, venous thromboses and stroke-like episodes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de32db620eefc4f362c124eeded34e6c
https://pubmed.ncbi.nlm.nih.gov/8735800
https://pubmed.ncbi.nlm.nih.gov/8735800
Autor:
Bernd Kruse, U. Holzbach, Ekkehard Wilichowski, Hans-Jürgen Christen, Folker Hanefeld, Jens Frahm
Publikováno v:
Neuropediatrics. 24(5)
Amongst 21 children with unclassified white matter diseases three patients could be characterised by an identical clinical picture, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) findings as a probably distinct enti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4438079602b491b3e401c82548a5bd7
https://pubmed.ncbi.nlm.nih.gov/8309512
https://pubmed.ncbi.nlm.nih.gov/8309512
Publikováno v:
Journal of Inherited Metabolic Disease. 22:192-193
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a296287d2b00731c7db30f47722ddbc6
https://doi.org/10.1023/a:1005422610091
https://doi.org/10.1023/a:1005422610091
Autor:
Folker Hanefeld, Jens Frahm, Wolfgang Hänicke, Bernd Kruse, U. Holzbach, Hans-Jürgen Christen
Publikováno v:
Neuropediatrics. 26:126-127
Combined MRI/MRS studies were performed in 9 girls with Rett syndrome of different ages. NAA, as marker of neuronal tissue, was found to decrease with increasing age. There was no evidence for a defective energy metabolism. The data point towards a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e46e8b248f88fac1ca4c57519b59b37d
https://doi.org/10.1055/s-2007-979742
https://doi.org/10.1055/s-2007-979742
Autor:
Donoso MV; Pharmacology Laboratory, Department Biology, Faculty of Chemistry and Biology, Centro Desarrollo de Nanociencias y Nanotecnología (CEDENNA), Universidad de Santiago de Chile, Alameda, 3363, Santiago, Chile., Catalán-Salas V; Pharmacology Laboratory, Department Biology, Faculty of Chemistry and Biology, Centro Desarrollo de Nanociencias y Nanotecnología (CEDENNA), Universidad de Santiago de Chile, Alameda, 3363, Santiago, Chile., Pulgar-Sepúlveda R; Neural System Laboratory, Department Biology, Faculty of Chemistry and Biology, Universidad de Santiago de Chile, Alameda, 3363, Santiago, Chile., Eugenín J; Neural System Laboratory, Department Biology, Faculty of Chemistry and Biology, Universidad de Santiago de Chile, Alameda, 3363, Santiago, Chile., Huidobro-Toro JP; Pharmacology Laboratory, Department Biology, Faculty of Chemistry and Biology, Centro Desarrollo de Nanociencias y Nanotecnología (CEDENNA), Universidad de Santiago de Chile, Alameda, 3363, Santiago, Chile.
Publikováno v:
Chemical record (New York, N.Y.) [Chem Rec] 2024 Oct; Vol. 24 (10), pp. e202400013. Date of Electronic Publication: 2024 Sep 24.