Zobrazeno 1 - 8
of 8
pro vyhledávání: '"R D, De Kremer"'
Publikováno v:
American Journal of Medical Genetics. 44:145-152
We report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis. He had pectus carinatum, gross thoracic kyphoscoliosis, and hip dysplasia, a picture which became conspicuous after age 4 years. Hepatosplenomegaly, he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94631a83347e8e17162a5ab4bb5cdf15
https://doi.org/10.1002/ajmg.1320440206
https://doi.org/10.1002/ajmg.1320440206
Publikováno v:
Advances in experimental medicine and biology. 486
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::de84aafe8e96165aecf42b8f811d9aba
https://pubmed.ncbi.nlm.nih.gov/11783535
https://pubmed.ncbi.nlm.nih.gov/11783535
Autor:
R D, De Kremer, A, Paschini-Capra, S, Bacman, C, Argaraña, G, Civallero, R I, Kelley, N, Guelbert, A, Latini, I, Noher de Halac, A, Giner-Ayala, J, Johnston, R, Proujansky, I, Gonzalez, C, Depetris-Boldini, A, Oller-Ramírez, C, Angaroni, R A, Theaux, E, Hliba, E, Juaneda
Publikováno v:
American journal of medical genetics. 99(2)
An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::490d351038f2e135c695550063309034
https://pubmed.ncbi.nlm.nih.gov/11241464
https://pubmed.ncbi.nlm.nih.gov/11241464
Publikováno v:
The Histochemical journal. 32(3)
Histoenzymological methods usually performed on muscle fibres have been adapted to assess the functioning of oxidative phosphorylation in human circulating blood lymphocytes and monocytes. Oxidases and dehydrogenases were analysed in lymphocyte/monoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::595d6b3f836ae6df2322d1bcd356890b
https://pubmed.ncbi.nlm.nih.gov/10841308
https://pubmed.ncbi.nlm.nih.gov/10841308
Publikováno v:
Acta physiologica, pharmacologica et therapeutica latinoamericana : organo de la Asociacion Latinoamericana de Ciencias Fisiologicas y [de] la Asociacion Latinoamericana de Farmacologia. 49(2)
A new method for the determination of branched-chain alpha-ketoacid concentration using lactate dehydrogenase (E C 1.1.1.27) isozyme C4 (LDH C4) from mouse testes is proposed. The assay is performed on urine and plasma without previous treatment. Alp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::731643ceb2ab74dd5c1e16e9ce9263aa
https://pubmed.ncbi.nlm.nih.gov/10797848
https://pubmed.ncbi.nlm.nih.gov/10797848
Publikováno v:
Medicina. 57(1)
From the description of two pairs of siblings belonging to unrelated families, one Argentine family with a history of consanguinity and Irish ancestry and the other family native of Paraguay, in whom mitochondrial 2-methylacetoacetyl-CoA thiolase def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97d474383a73014925527426567d8876
https://pubmed.ncbi.nlm.nih.gov/9435370
https://pubmed.ncbi.nlm.nih.gov/9435370
Publikováno v:
Medicina. 50(4)
Since the original description 26 years ago, of the hepatic glycogen synthetase deficiency, only one more case was reported in 1977. We present the studies carried out on an Argentine boy of Italian ancestry who at age 21 months, showed signs of hepa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c59b9cc31f84eb1a69849c357c34d17
https://pubmed.ncbi.nlm.nih.gov/2130223
https://pubmed.ncbi.nlm.nih.gov/2130223
Publikováno v:
Medicina. 45(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::74baa5bfbc8eefc2dbcdae4002d84440
https://pubmed.ncbi.nlm.nih.gov/3842467
https://pubmed.ncbi.nlm.nih.gov/3842467