Výsledky vyhledávání - "L, Bluestone"

Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

Autor: Robert F. Stratton, Daniel L. Bluestone

Publikováno v: American Journal of Medical Genetics. 41:169-172

We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2683cdfd2f4681bbbe7bab0eb064101d
https://doi.org/10.1002/ajmg.1320410206

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Surface properties of two rabbit lung lamellar body preparations with markedly different fatty acid profiles

Autor: Kenneth J. Longmuir, Vitaly Vodyanoy, Gary L. Bluestone

Publikováno v: Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism. 1047:284-289

The effect of fatty acid desaturation on the surface properties of lung surfactant were studied on a Wilhelmy surface balance by using two preparations of lamellar body (LB) material with markedly different fatty acid profiles: (1) lamellar bodies fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be450da5734e78d697c90ecec80d79f
https://doi.org/10.1016/0005-2760(90)90527-5

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Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, add-on trial

Autor: Blaise F. D. Bourgeois, John F. Kerrigan, W. Edwin Dodson, Lawrence D. Morton, Edward P Monaghan, W. Donald Shields, John M. Pellock, Teresita Y Nelson, Daniel L. Bluestone

Publikováno v: Epilepsy research. 42(2-3)

This is a multicenter, open-label, add-on trial, investigating the safety and efficacy of ganaxolone (GNX) in a population of children with refractory infantile spasms, or with continuing seizures after a prior history of infantile spasms. A total of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a736dbba8773353c4fd00aa7978c813e
https://pubmed.ncbi.nlm.nih.gov/11074186

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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-Hydroxybutyric Aciduria): case reports of 23 new patients

Publikováno v: Pediatrics (Evanston), 99, 567-574
Pediatrics (Evanston), 99, pp. 567-574
Karolinska Institutet
Pediatrics (Evanston), 99, 4, pp. 567-574

Objectives. To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cf8205fcec461aac75b58b762ec3f7
http://hdl.handle.net/2066/25009

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Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

Autor: Filippo M. Santorelli, Suk Chun Mak, Salvatore DiMauro, Pamela Kranz-Eble, Karen D. Jain, Darryl C. De Vivo, Sara Shanske, Marta E. Vazquez-Memije, Daniel L. Bluestone

Publikováno v: Pediatric research. 39(5)

The mitochondrial DNA (mtDNA) point mutation T8993G has been associated with maternally inherited Leigh syndrome (MILS) when very abundant (95%). MILS patients are usually severely affected and die in early infancy. In 1993, a novel T8993C point muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b028696937c117845e0a2fd5f55823d3
https://pubmed.ncbi.nlm.nih.gov/8726250

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Biological Amphiphile Systems, and Relevance of Surfactants in the Biomedical Arena, Health, and the Human Body

Autor: W. Bras, M. P. Krafft, A. Bor, E. W. Kaler, J. Mellema, J. P. Rolland, H. E. J. Hofland, M. T. García, S. Jutras, P. Tancréde, K. L. E. Kaiser, E. del Rio, A. Alonso, G. L. Bluestone, K. S. Dhathathreyan, Pierandrea Lo Nostro, M. Chatterjee, J. M. González-Mañas, J. J. González, S. Paredes, C. L. Khetrapal, W. Helfrich, Anne Novelli, B. Kluge, A. Colotto, J. Sanchez, M. Winterhalter, Janusz Pawelek, Melissa Speer, D. N. Misra, R. B. Shireman, K. M. Yu, M. A. Urbaneja, Teresa M. Carvajal, H. Talsma, A. K. Tiwari, Ok-Sup Lee, Jong-Duk Kim, C. C. Liu, F. M. Goñi, A. Dhathathreyan, F. Spies, Y. C. Chiu, P. W. Chun, P. Bosch, V. K. Shahi, F. Comelles, Geeta Datta, M. F. Roberts, D. E. Milov, Maria Polanska, Ralph W. Niven, Armand Lattes, P. Laggner, Hans Schreier, I. Gruda, Sanjay Kumar Singh, D. Meyouchas, H. E. Bodde, M. Postel, Iwona Maciejowska, S. Kalachandra, Ryszard Kurzawa, D. Hoekstra, J. Caelles, K. J. Longmuir, T. A. A. Fonteijn, F. Baumgart, M. A. Partearroyo, G. A. Senisterra, J. B. F. N. Engberts, V. Vodyanoy, L. I. Viera, J. A. Bouwstra, T. L. Lin, G. S. Gooris, C. Ullrich, K. Lohner, E. A. Disalvo, J. B. A. F. Smeulders, Jin-Gu Kim, C. Santaella, Magdalena Hanicka, Kehar Singh, J. Barwicz, P. Vierling, J. Sánchez Leal, J. M. González Mañas, M. A. Long, S. H. Chen, D. Lichtenberg, C. Blom, M. Tribout, P. S. Parvathanathan, H. E. Junginger, J. Vater, M. Wahlgren, D. P. Singh, Lata Sumanan, K. Usha Deniz, T. Arnebrant, D. Ziessow, M. Rubin, S. P. Lee, J. G. Riess, Y. J. L. Parra, P. Nandy, K. V. Ramanathan, Gabriella Gabrielli, Narendra N. Roy, M. Rotenberg, Hak-Hee Kang, Isabelle Rico

Publikováno v: Surfactants in Solution ISBN: 9781461367123

Electron micrographs, dynamic light-scattering, and osmotic measurements have been performed on monolayered vesicles obtained from two bolaform amphiphiles of recent synthesis. Monolayered vesicles of bipolar lipids constitute an interesting model fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1339047fbc959dea1dfa7c88b0bc5503
https://doi.org/10.1007/978-1-4615-3836-3_53

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