Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Mary Anne Guggenheim"'
Autor:
Karen Garnaas, David S. Walton, Ann B. Moser, Angela Liu, Ellen R. Elias, Grace L. Chen, Mary Anne Guggenheim, Paul A. Watkins, Ola H. Skjeldal, Hugo W. Moser, Magnhild Rasmussen, Laird G. Jackson, Donald Gordon, Amiya K. Hajra, Gerald V. Raymond, Martina C. Mcguinness, Sakkubai Naidu
Publikováno v:
The Journal of Pediatrics. 127:13-22
Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a064274ee2ed899fef6e3ce8fe463be5
https://doi.org/10.1016/s0022-3476(95)70250-4
https://doi.org/10.1016/s0022-3476(95)70250-4
Autor:
William W. Bullen, Edward R.B. McCabe, Stephen I. Goodman, Gary M. Lum, Manuel Roig, Steven P. Ringel, Mary Anne Guggenheim
Publikováno v:
Annals of Neurology. 7:441-449
Two brothers with a recently described inborn error of metabolism characterized by glyceroluria, hyperglycerolemia, and generalized glycerol kinase deficiency had moderate psychomotor retardation, spasticity, growth failure, a nonspecific myopathy, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd6fafe4df296bef32ea55bf1a1fc5ff
https://doi.org/10.1002/ana.410070509
https://doi.org/10.1002/ana.410070509
Autor:
Mary Anne Guggenheim, Samuel Baron
Publikováno v:
Journal of Infectious Diseases. 136:50-58
Fifteen children ranging in age from one and one-half to 14 years received intravenous polyriboinosinic-polyribocytidylic acid [poly (I)-poly (C)], an interferon inducer. The patients all had serious neurologic illness either directly or circumstatia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b392985fbadf19bfc6c3899a2e9f856a
https://doi.org/10.1093/infdis/136.1.50
https://doi.org/10.1093/infdis/136.1.50
Autor:
K. Goldberg, L. O. Lubchenco, Frederick H. Wirth, W. R. Braithwaite, W. E. Hathaway, Mary Anne Guggenheim, James Murphy
Publikováno v:
Pediatrics. 69:419-425
To determine the effect of partial plasma exchangetransfusion, 20 newborn infants with neonatal hyperviscosity were randomly assigned to observation or treatment with partial plasma exchange transfusion within the first eight hours after birth. They
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb1312883f03e6d9141522deae0a61da
https://doi.org/10.1542/peds.69.4.419
https://doi.org/10.1542/peds.69.4.419
Autor:
Thomas P. Naidich, Johnny B. Delashaw, Richard F. Spaide, William C. Broaddus, Jun-ichi Nakada, Dennis G. Vollmer, William S. Ball, Laurence E. Becker, Venkita Jagadha, Patricia K. Duffner, Michael E. Cohen, Mary Anne Guggenheim, Yoshiharu Matsushima, Akira Takaku, Richard B. Towbin, James B. Ball, Shunro Endo, Robert D. Restuccia, Nobuo Oka, Tae Sung Park, Peter M. Klara
Publikováno v:
Pediatric Neurosurgery. 12:I-V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14f89b2ea8f0feee955d39ae220dc27a
https://doi.org/10.1159/000120266
https://doi.org/10.1159/000120266
Autor:
Marilyn M. McDonald, Michael L. Johnson, Carol M. Rumack, Beverly L. Koops, Mary Anne Guggenheim, Cynthia Babb, William E. Hathaway
Publikováno v:
Pediatrics. 74:26-31
Fifty newborn infants of less than 33 weeks' gestation were followed prospectively from birth with serial coagulation and real-time ultrasound studies. A significant association of hypocoagulability in the first four hours of life with subsequent ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36eafae9de5052da25a97dacb1d1de69
https://doi.org/10.1542/peds.74.1.26
https://doi.org/10.1542/peds.74.1.26
Publikováno v:
The Journal of Pediatrics. 100:51-58
We have studied four children (ages 6 to 17 years) with chronic cholestasis who developed a slowly progressive neuromuscular disease characterized by ataxia, dysmetria, areflexia, loss of vibratory sensation, and a variable ophthalmoplegia. Serum vit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b225a3a9ec34b65341376ea8313db8ca
https://doi.org/10.1016/s0022-3476(82)80234-5
https://doi.org/10.1016/s0022-3476(82)80234-5
Autor:
Mary Anne Guggenheim, Edward R.B. McCabe, Stephen I. Goodman, William W. Bullen, Donald J. Sceats, Paul V. Fennessey, Barbara S. Miles
Publikováno v:
Biochemical and biophysical research communications. 78(4)
Two brothers with a previously unidentified syndrome of severe osteoporosis and neuromuscular disease have elevated concentrations of glycerol in serum and urine. A deficiency of glycerol kinase in leukocytes of both patients is described.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22398ac1da65defc210d0e2da0e0e93e
https://pubmed.ncbi.nlm.nih.gov/200232
https://pubmed.ncbi.nlm.nih.gov/200232
Autor:
Hans E. Neville, Jill M. Starcevich, Carol A. Wehling, Steven P. Ringel, Mary Anne Guggenheim
Publikováno v:
Neurology. 33(4)
We report muscle biopsy abnormalities in four patients with a chronic cholestatic syndrome, low serum vitamin E levels, absent reflexes, mild limb weakness, ataxia, and sensory loss in arms and legs. Skeletal muscle fibers contained multiple autofluo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3600fc457d049dda79f2deaa1b686754
https://pubmed.ncbi.nlm.nih.gov/6188077
https://pubmed.ncbi.nlm.nih.gov/6188077
Autor:
Maryalice Cheney, William F. Balistreri, Nancy Butler-Simon, Arnold Silverman, Virginia Jackson, Christopher A Miller, Mary Anne Guggenheim, James E. Heubi, Ronald J. Sokol, Susan T. Iannaccone
Publikováno v:
American journal of diseases of children (1960). 139(12)
• To determine the frequency of biochemical vitamin E deficiency and of the clinical signs of the vitamin E deficiency neurologic syndrome in children with prolonged neonatal cholestatic disorders, we studied 46 children (aged 1 month to 17.0 years
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9172bfb14283167ccac2a534eb4201d
https://pubmed.ncbi.nlm.nih.gov/4061425
https://pubmed.ncbi.nlm.nih.gov/4061425