Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Lawrence R. Charnas"'
Autor:
Paul J. Orchard, Elsa Shapiro, Frank L. Rimell, Satkiran S. Grewal, Charles Peters, Stella M. Davies, John E. Wagner, Kathleen A. Delaney, S Abel, Lawrence R. Charnas, William Krivit, Alfred C. Grovas, David A. Wenger, Lawrence A. Lockman
Publikováno v:
The Journal of Pediatrics. 144:569-573
Objectives To study the efficacy of hematopoietic stem cell transplantation (HCT) for ameliorating the clinical manifestations of α-mannosidosis. Study design Four patients with α-mannosidosis underwent allogeneic HCT at the University of Minnesota
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49bc8b97f94a5db3917a4f094a6a5646
https://doi.org/10.1016/j.jpeds.2004.01.025
https://doi.org/10.1016/j.jpeds.2004.01.025
Autor:
Gabriela Richard, Yolanda M. Whyte, Ervin H. Epstein, Daniel Hohl, Sherri J. Bale, Lawrence R. Charnas, Lisa E. Smith, John J. DiGiovanna, Uwe Wollina, Jean-Mario Giroux, Jing-Ping Lin, Peter Itin
Publikováno v:
Journal of Investigative Dermatology. 109(5):666-671
Erythrokeratodermias are a clinically heterogeneous group of rare autosomal dominant disorders of cornification with overlapping features including hyperkeratosis and erythema. We ascertained five extended pedigrees with different phenotypes for a li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf51844a70acf12fe867849a0e4c88c
Autor:
Sigrid W. Fouchier, Rebecca D. Jackson, Joep C. Defesche, Daniel J. Rader, Charles Kooperberg, Majid Nikpay, Jeanette Erdmann, Olle Melander, Leslie A. Lange, Gina M. Peloso, Nathan O. Stitziel, Sekar Kathiresan, Stefano Duga, Ruth McPherson, Paul L. Auer, Nicola Martinelli, Hugh Watkins, Lawrence R. Charnas, Suthesh Sivapalaratnam, Domenico Girelli, Bruna Gigante, G. Kees Hovingh, John J.P. Kastelein, Barbara Sjouke, Aart J. Nederveen, Stacey Gabriel, David Altshuler, Heribert Schunkert, Diego Ardissino, Ulf de Faire, Anuj Goel, Marju Orho-Melander, Martin Farrall, Nilesh J. Samani, Muredach P. Reilly, Alessa M. Moscoso, Timothy A. Barnes
Publikováno v:
Arteriosclerosis, thrombosis, and vascular biology, 33(12), 2909-2914. Lippincott Williams and Wilkins
Objective— Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1 . We identified a family
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c3b0816db985eea1a57d4af0bd05d3
https://pubmed.ncbi.nlm.nih.gov/24072694
https://pubmed.ncbi.nlm.nih.gov/24072694
Autor:
Lauren Kenworthy, Lawrence R. Charnas
Publikováno v:
American Journal of Medical Genetics. 59:283-290
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Although there is a wide range of intellectual function in affected individuals, it is o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6fe8d1483a8b76c0c5ebb269d1aa17
https://doi.org/10.1002/ajmg.1320590304
https://doi.org/10.1002/ajmg.1320590304
Autor:
Joan C. Marini, Lawrence R. Charnas
Publikováno v:
Connective Tissue Research. 31:s23-s26
The clinically important neurlogic complications in 76 patients with OI seen at the NIH included brainstem compression from basilar invagination, skull fracture, and seizure disorders. Neuroimaging studies demonstrated sulcal prominence and ventricul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd8661d95c35ecb6bca972a8b504a7
https://doi.org/10.3109/03008209509116828
https://doi.org/10.3109/03008209509116828
Autor:
Valerie A. Cwik, Thomas Brushart, Isa Bernardini, Marinos C. Dalakas, Lawrence R. Charnas, Roger W. Gilliatt, William A. Gahl, Kamal G. Ishak, Carlos A. Luciano, Douglas L. Fraker
Publikováno v:
Annals of Neurology. 35:181-188
Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long-term complications. Muscle involvement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e279f8df44fc3e78bc29e6048b015574
https://doi.org/10.1002/ana.410350209
https://doi.org/10.1002/ana.410350209
Autor:
Lawrence R. Charnas, Donna M. Krasnewich, William A. Gahl, Thomas C. Markello, Marinos C. Dalakas, Isa Bernardini
Publikováno v:
Pediatric Research. 34:115-119
The renal tubular Fanconi syndrome of children with nephropathic cystinosis causes plasma and muscle carnitine depletion. L-Carnitine replacement therapy for up to 18 mo has previously been shown to normalize plasma but not muscle carnitine levels. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68ae453bc3bddd7ad8f4a48568de9d9
https://doi.org/10.1203/00006450-199308000-00001
https://doi.org/10.1203/00006450-199308000-00001
Publikováno v:
New England Journal of Medicine. 324:1318-1325
The oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental retardation, and renal tubular dysfunction. We investigated growth, renal function, and serum chemistry values in patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1367f9671fecde295bbef3100c38dd
https://doi.org/10.1056/nejm199105093241904
https://doi.org/10.1056/nejm199105093241904
Autor:
Elsa Shapiro, S Abel, Lawrence A. Lockman, Daniel J. Loes, Patrick R. Aubourg, Lawrence R. Charnas, Kathryn E. Dusenbery, Norma K.C. Ramsay, Paul J. Orchard, William Krivit, Shunichi Kato, Ye Tan, Charles Peters, Hugo W. Moser, Anne I. Goldman, Richard S. Ziegler, Todd E. DeFor, Satkiran S. Grewal
Publikováno v:
Blood. 104(3)
Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid metabolism, adrenal insufficiency, and cerebral demyelination. Death occurs within 2 to 5 years of clinical onset without hematopoietic cell transplantation (H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecee05366e5ce60587d247ea6d8078d
https://pubmed.ncbi.nlm.nih.gov/15073029
https://pubmed.ncbi.nlm.nih.gov/15073029
Autor:
Amalia Dutra, N.C. Dracopoli, Lawrence R. Charnas, Robert L. Nussbaum, Pasi A. Jänne, Jennifer M. Puck
Publikováno v:
Cytogenetic and Genome Research. 66:164-166
The 75-kDa (type II) inositol polyphosphate-5-phosphatase, originally described in platelets, is one of at least three known enzymes capable of dephosphorylating inositol-1,4,5-trisphosphate (IP3) to inositol-1,4-bisphosphate (IP2). To further charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1b724f3a7a60bfc01ce110338610b7f
https://doi.org/10.1159/000133691
https://doi.org/10.1159/000133691