Zobrazeno 1 - 10
of 50
pro vyhledávání: '"D. D. De Vries"'
Autor:
Cüce, Erdem1 erdem.cuce@erdogan.edu.tr, Cüce, Pınar Mert2
Publikováno v:
Gazi Journal of Engineering Sciences (GJES) / Gazi Mühendislik Bilimleri Dergisi. agu2024, Vol. 10 Issue 2, p206-224. 19p.
Autor:
D. D. De Vries, B.A. van Oost, W. Sperl, M.P.M.E. van der Wouw, R. C. A. Sengers, Wim Ruitenbeek, C.J.M. Buzing, J. M. F. Trijbels
Publikováno v:
Neuromuscular Disorders. 2:185-195
A patient with the Pearson marrow and pancreas syndrome is presented. She showed an anaemia with neutropenia and thrombopenia, failure to thrive, diarrhoea, disturbed glucose homeostasis and lactic acidosis. An exocrine pancreatic insufficiency was l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5df0dabfdecf91d447b453b792b89eda
https://doi.org/10.1016/0960-8966(92)90005-q
https://doi.org/10.1016/0960-8966(92)90005-q
Publikováno v:
Journal of Inherited Metabolic Disease. 16:534-536
The molecular basis of most types of deficiency in mitochondrial energy metabolism is still unknown. Application of newly developed DNA technology to the relatively small mtDNA molecule with known base sequence has resulted in the detection of deleti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1d0dbe957d0564c755fec57982f6199
https://doi.org/10.1007/bf00711674
https://doi.org/10.1007/bf00711674
Publikováno v:
Annals of neurology. 34(3)
By direct sequencing, we have discovered a novel heteroplasmic mutation (T--C) at nucleotide position 8993 in the mitochondrial ATPase 6 gene in a family with Leigh's syndrome. Another mutation in the same codon (T8993G) has been reported before in L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a99d5dfff3904de17de93d39d87bedb8
https://pubmed.ncbi.nlm.nih.gov/8395787
https://pubmed.ncbi.nlm.nih.gov/8395787
Publikováno v:
Human genetics. 91(1)
A family with myoclonus epilepsy has been described previously as suffering from an X-linked disorder, because at least four males were affected, and only mild and variable symptoms were seen in some female carriers. In this family, we have now ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587d2e7c8386dd9f853efd2d685332f1
https://pubmed.ncbi.nlm.nih.gov/8454287
https://pubmed.ncbi.nlm.nih.gov/8454287
Publikováno v:
Scandinavian journal of rheumatology. Supplement. 87
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::092310ac120c3427d288cfa4c6e91b31
https://pubmed.ncbi.nlm.nih.gov/1701922
https://pubmed.ncbi.nlm.nih.gov/1701922
Publikováno v:
Biotechnology & Genetic Engineering Reviews; Dec2024, Vol. 40 Issue 4, p4512-4531, 20p
Autor:
Gundepudi, Karthikay1 (AUTHOR), Neelamraju, Pavan Mohan1 (AUTHOR), Sangaraju, Sambasivam2 (AUTHOR), Dalapati, Goutam Kumar3,4 (AUTHOR), Ball, Writoban Basu5 (AUTHOR), Ghosh, Siddhartha6 (AUTHOR) siddhartha.g@srmap.edu.in, Chakrabortty, Sabyasachi7 (AUTHOR) sabyasachi.c@srmap.edu.in
Publikováno v:
Journal of Materials Science. Sep2023, Vol. 58 Issue 35, p13889-13924. 36p. 5 Color Photographs, 1 Black and White Photograph, 11 Diagrams, 3 Charts, 1 Graph.
Publikováno v:
Human Fertility. Feb2023, Vol. 26 Issue 1, p17-26. 10p.
An elderly patient with chronic myelomonocytic leukaemia developed severe bone pains and acute gonarthritis. Intravenously administered cytosine arabinoside brought dramatic relief of the bone pains and led to a rapid subsidence of the arthritis, wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6968526c411a319b78129403718a9a5
https://europepmc.org/articles/PMC1006659/
https://europepmc.org/articles/PMC1006659/
