Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Robert E. Carrel"'
Publikováno v:
Neurochemical research. 20(11)
A 19-year-old Irish-Jewish male had a slow neurologic regression starting at age 4 1/2 years with stuttering. The chronic course resembled that of Spielmeyer-Vogt (juvenile ceroid-lipofuscinosis) disease. The brain was atrophic with neuronal losses a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7d3c70637da882cf953df9220fa0b5b
https://pubmed.ncbi.nlm.nih.gov/8786818
https://pubmed.ncbi.nlm.nih.gov/8786818
Autor:
Rena E. Falk, Stephen D. Cederbaum, John P. Blass, Gary E. Gibson, R. A. Pieter Kark, Robert E. Carrel
Publikováno v:
Pediatrics. 58:713-721
Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate were shown to have a deficiency in the pyruvate dehydrogenase com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::401f08a55f9e5c2d90084626225dfbbb
https://doi.org/10.1542/peds.58.5.713
https://doi.org/10.1542/peds.58.5.713
Publikováno v:
The Journal of pediatrics. 78(4)
Routine chromosome analyses were initially interpreted as normal in 3 siblings with mental retardation and multiple congenital defects. Subsequent investigation showed that their mother is a balanced carrier of an F/13 chromosome translocation which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::967fdeb4e8e3d39e3d1a76fefc1cae84
https://pubmed.ncbi.nlm.nih.gov/5547823
https://pubmed.ncbi.nlm.nih.gov/5547823
Publikováno v:
The Journal of pediatrics. 80(1)
Chromosome analyses were performed on 700 consecutive children referred to a child psychiatric clinic. Seventy-seven per cent of these children were referred because of emotional problems and 23 per cent because of mental retardation, often accompani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6447440d7e3239d9dc8cc87ca11aa71
https://pubmed.ncbi.nlm.nih.gov/5016354
https://pubmed.ncbi.nlm.nih.gov/5016354
Autor:
Arvan L. Fluharty, Joe Trammell, Myna T. Porter, Elton L. Lassila, Robert E. Carrel, Hayato Kihara
Publikováno v:
Biochemical medicine. 4(2)
β-Galactosidase, β- N -acetyl glucosaminidase, β-glucuronidase, and glucose 6-phosphate dehydrogenase activities have been determined in extracts of cultured fibroblasts from individuals with the Type I, II, and III mucopolysaccharidoses, their pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c406e59b6cb61558ded345422ef3114
https://pubmed.ncbi.nlm.nih.gov/4257448
https://pubmed.ncbi.nlm.nih.gov/4257448
Publikováno v:
Human Genetics. 38:365-366
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4082e5bb0152fc4dcbc30516f1e13219
https://doi.org/10.1007/bf00402167
https://doi.org/10.1007/bf00402167
Autor:
Richard W. Erbe, Gerry R. Boss, Kenneth N.F. Shaw, David R. Cox, Stephen D. Cederbaum, Robert E. Carrel
Publikováno v:
Pediatric Research. 15:560-560
M.S., a 5-year-old girl presented at 10 months with developmental delay, severe hypotonia, respiratory difficulty and inability to focus. She was the offspring of a white-black mating but had straight blonde hair and blue eyes. Urine and plasma homoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8674eb051481fca070132ae6da2d4d6
https://doi.org/10.1203/00006450-198104001-00730
https://doi.org/10.1203/00006450-198104001-00730
Autor:
Ronald S. Swerdloff, Robert H. Fiser, Arthur H. Cohen, Robert E. Carrel, William D. Odell, Lila J Stites, Delbert A. Fisher, George A. Bray
Publikováno v:
Pediatric Research. 8:368-368
The etiology of the Prader-Willi Syndrome is obscure. Although the clinical characteristics (obesity, mental retardation, hypotonia and hypogonadism) suggest hypothalamic dysfunction, this has not been documented. We have studied two patients (15 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d7fcd4c63121ae9198afb1145050759
https://doi.org/10.1203/00006450-197404000-00169
https://doi.org/10.1203/00006450-197404000-00169
Publikováno v:
Pediatric Research. 15:572-572
Clinical features in patients with 9p duplication have been well delineated (de Grouchy 1977). This report is prompted by two patients seen in the Genetics Clinic at University of California Irvine Medical Center and University of California Los Ange
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f8c62ff7e7a3b763eb3a6a43e546998
https://doi.org/10.1203/00006450-198104001-00802
https://doi.org/10.1203/00006450-198104001-00802
Autor:
Robert E. Carrel
Publikováno v:
JAMA: The Journal of the American Medical Association. 221:89
To the Editor.— I wish to respond to Dr. Lagos' letter published in the May 1, 1972, edition of JAMA , and voice my strong agreement with his recommendations. I agree that the continued manufacturing of the oral suspension containing 125 mg/5 ml po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4daf27b2cfe2a5e438a6c8a1b766357
https://doi.org/10.1001/jama.1972.03200140073032
https://doi.org/10.1001/jama.1972.03200140073032