Zobrazeno 1 - 10
of 141
pro vyhledávání: '"R, Bieth"'
Publikováno v:
Annales de biologie clinique. 40(5)
A new, clinically and biochemically atypical case of Lesch-Nyhan syndrome is presented. There is mild neurological involvement, the APRTase activity is normal, despite a raised PRPP concentration and HGPRTase activity is low. The optimal pH and tempe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4ac21af7b0221f1e60beec680a0452e
https://pubmed.ncbi.nlm.nih.gov/6186166
https://pubmed.ncbi.nlm.nih.gov/6186166
Publikováno v:
La Nouvelle presse medicale. 8(49)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8ab672b5c473e302607baba931bbf3a
https://pubmed.ncbi.nlm.nih.gov/534264
https://pubmed.ncbi.nlm.nih.gov/534264
Publikováno v:
Pediatrie. 32(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eff8963a4c9e4952609f8554ef6285b5
https://pubmed.ncbi.nlm.nih.gov/889622
https://pubmed.ncbi.nlm.nih.gov/889622
Publikováno v:
Archives des maladies du coeur et des vaisseaux. 75(12)
Histological changes of the skeletal muscle with moderate fatty infiltration and varied abnormalities of the muscle fibres and conjunctivo-vascular tissue were demonstrated in three adult patients with apparently primary cardiomyopathy with dilatatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cf4cc7cede0d8d3641c0208f79c43c81
https://pubmed.ncbi.nlm.nih.gov/6820259
https://pubmed.ncbi.nlm.nih.gov/6820259
Publikováno v:
Archives francaises de pediatrie. 35(5)
Studies of a child with hyperammonemia have demonstrated a deficiency in OCTase. The kinetic properties of the enzyme were studied and it could be shown that we have to deal with a new mutation which is different from the ones previously known. It is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ce4f744f4f96232e50db67b2b0360d3c
https://pubmed.ncbi.nlm.nih.gov/678030
https://pubmed.ncbi.nlm.nih.gov/678030
Publikováno v:
La Nouvelle presse medicale. 5(40)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::69d91ffd5415645879ba7a3a9dcd6c33
https://pubmed.ncbi.nlm.nih.gov/1005088
https://pubmed.ncbi.nlm.nih.gov/1005088
Publikováno v:
Annales de pediatrie. 27(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::98bdb0cb9619af6ba10ed237ae031338
https://pubmed.ncbi.nlm.nih.gov/7212552
https://pubmed.ncbi.nlm.nih.gov/7212552
Publikováno v:
Annales de pediatrie. 27(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25e9399fa12365cf776d82e3331ca234
https://pubmed.ncbi.nlm.nih.gov/7224543
https://pubmed.ncbi.nlm.nih.gov/7224543
Autor:
L, Rumbach, J M, Warter, G, Coquillat, C, Marescaux, M, Collard, F, Rohmer, R, Bieth, R, Zawislak
Publikováno v:
Revue neurologique. 139(4)
A 27-year-old Algerian patient presented a slowly progressive disease clinically characterized by a cerebellar syndrome, absence of deep reflexes, bilateral sign of Babinski, deep sensory disturbances, ophthalmologic disorders and pes cavus. The diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81aa3cf1b2c130ea89c294afa2b7fcd3
https://pubmed.ncbi.nlm.nih.gov/6310717
https://pubmed.ncbi.nlm.nih.gov/6310717
Publikováno v:
Presse medicale (Paris, France : 1983). 12(39)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::620120730bbc680b2eacfa8ae5778ed8
https://pubmed.ncbi.nlm.nih.gov/6227899
https://pubmed.ncbi.nlm.nih.gov/6227899