المؤلفون: Panosyan, Francis B, Laura, Matilde, Rossor, Alexander M, Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W, Lewis, Richard A, Day, John, Horvath, Rita, Herrmann, David N, Shy, Michael E, Pareyson, Davide, Reilly, Mary M, Scherer, Steven S, Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Amino Acid Sequence, Charcot-Marie-Tooth Disease, Child, Connexins, Cross-Sectional Studies, Family, Female, Genetic Association Studies, Genotyping Techniques, Humans, Male, Middle Aged, Mutation, Neural Conduction, Phenotype, Sex Characteristics, Young Adult, Gap Junction beta-1 Protein

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/290336Test

الإتاحة: https://doi.org/10.17863/CAM.37566Test
https://www.repository.cam.ac.uk/handle/1810/290336Test

المؤلفون: Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network

المصدر: Molecular Medicine, Vol 19, Iss 1, Pp 26-29 (2013)

مصطلحات موضوعية: Ferrochelatase (FECH), Erythropoietic Protoporphyria, North American Patients, FECH Mutations, Asymptomatic Heterozygotes, Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1076-1551Test; https://doaj.org/toc/1528-3658Test

الوصول الحر: https://doaj.org/article/62c74a1b0cea4e1389f731fbd319d5b8Test

المؤلفون: Balwani, Manisha, Wang, Bruce, Anderson, Karl E, Bloomer, Joseph R, Bissell, D Montgomery, Bonkovsky, Herbert L, Phillips, John D, Desnick, Robert J, Porphyrias Consortium of the Rare Diseases Clinical Research Network

المصدر: Hepatology (Baltimore, Md.), vol 66, iss 4

مصطلحات موضوعية: screening and diagnosis, Gastroenterology & Hepatology, Liver Disease, Porphyrias Consortium of the Rare Diseases Clinical Research Network, Clinical Sciences, Immunology, Disease Management, Hematology, Neurodegenerative, Medical Biochemistry and Metabolomics, 7.3 Management and decision making, Porphyrias, Detection, Hepatic, Clinical Research, Humans, Management of diseases and conditions, Digestive Diseases, 4.2 Evaluation of markers and technologies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::11684a8556e96918eb2b54962da88392Test
https://escholarship.org/uc/item/46z200nhTest

المؤلفون: Clinical Research in ALS and Related Disorders for Therapeutic Development, Rare Diseases Clinical Research Network, Terra Biological LLC

المساهمون: Omar Jawdat, Omar Jawdat MD

المصدر: Trial of Oxaloacetate in ALS

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04204889Test

المؤلفون: Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Lysosomal Disease Network

المصدر: Nestras Vedol L. Quantate neuroagg mucopolysaccharoses clal trls. Mol Genet Metab. 2017 Dec;122S:17-24. do 10.1016/j.ymgme.2017.09.006. Epub 2017 Sep 15.
Shapo EG, Nestras Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eengart J, Nlason GR, Raan J, Mamak E, Cowan MJ, Baey-Olson M, Harmatz P, Shankar SP, Cagle S, AlN, Steer RD, Woznk J, L KO, Whley CB. Neurocognn across the spectrum of mucopolysaccharos type Age, severy, and treatment. Mol Genet Metab. 2015 Sep-Oct;116(1-2):61-8. do 10.1016/j.ymgme.2015.06.002. Epub 2015 Jun 17.
Magnetic Resonance Spectroscopy (MRS) to Determine Neuroinflammation and Oxidative Stress in MPS I

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03576729Test

Other URLs: http://www.lysosomaldiseasenetwork.orgTest/
https://www.rarediseasesnetwork.org/LDNTest/

المؤلفون: Rare Diseases Clinical Research Network, National Heart, Lung, and Blood Institute (NHLBI)

المصدر: Trapnell BC, Whsett JA, Nakata K. Pulmonary alveolar proteos. N Engl J Med. 2003 Dec 25;349(26):2527-39. do 10.1056/NEJMra023226. No abstract avaable.
Carey B, Trapnell BC. The molecular bas of pulmonary alveolar proteos. Cl munol. 2010 May;135(2):223-35. do 10.1016/j.cl.2010.02.017. Epub 2010 Mar 25.
Ucha K, Nakata K, Carey B, Chalk C, SuzukT, SakagamT, Koch DE, Stevens C, oue Y, Yamada Y, Trapnell BC. Standarded serum GM-CSF autoantody testg for the route clal dgnos of automune pulmonary alveolar proteos. J munol Methods. 2014 Jan 15;402(1-2):57-70. do 10.1016/j.j.2013.11.011. Epub 2013 Nov 23.
The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03531996Test

المؤلفون: Rare Diseases Clinical Research Network, National Institutes of Health (NIH)

المصدر: McAlln SJ, Paterson CR. Musculo-skeletal problems assocted wh pregnancy women wh osteogenes perfecta. J Obstet Gynaecol. 2002 Mar;22(2):169-72. do 10.1080/01443610120113328.
Pennk V, Ldle SD. terventns for preventg and treatg pelv and back pa pregnancy. Cochrane Database Syst Rev. 2013 Aug 1;(8):CD001139. do 10.1002/14651858.CD001139.pub3.
Khovhunk W, Epste S. Osteoporos pregnancy. Osteoporos t. 1996;6(5):345-54. do 10.1007/BF01623007.
Pabger C, Heu C, Frohner A, DaHP. Pregnancy- and lactatn-assocted transnt osteoporos of both hs a 32 year old patnt wh osteogenes perfecta. Bone. 2012 Jul;51(1):142-4. do 10.1016/j.bone.2012.04.013. Epub 2012 May 3.
Choe EY, Song JE, Park KH, Seok H, Lee EJ, L SK, Rhee Y. Effect of terarate on pregnancy and lactatn-assocted osteoporos wh multle vertebral fractures. J Bone Mer Metab. 2012 Sep;30(5):596-601. do 10.1007/s00774-011-0334-0. Epub 2011 Nov 23.
Moyer VA; U.S. Prevente Serves Task Force. Screeng for gestatnal dbetes mellus: U.S. Prevente Serves Task Force recommendatn statement. Ann tern Med. 2014 Mar 18;160(6):414-20. do 10.7326/M13-2905.
Hypertensn pregnancy. Report of the Ameran College of Obstetrns and Gynecologts' Task Force on Hypertensn Pregnancy. Obstet Gynecol. 2013 Nov;122(5):1122-1131. do 10.1097/01.AOG.0000437382.03963.88. No abstract avaable.
Gaynes BN, Gav N, Meltzer-Brody S, Lohr KN, Swson T, Gartlehner G, Brody S, Mler WC. Peratal depressn: prevalence, screeng accuracy, and screeng outcomes. Ev Rep Technol Assess (Summ). 2005 Feb;(119):1-8. do 10.1037/e439372005-001. No abstract avaable.
Natnal Val Statts Reports. Center for Dease Control. Volume 64, Number 1. (2015).
Mercer BM. Preterm premature rupture of the membranes: current approaches to evaluatn and management. Obstet Gynecol Cl North Am. 2005 Sep;32(3):411-28. do 10.1016/j.ogc.2005.03.003.
Callaghan WM, Kukla EV, Berg CJ. Trends postpartum hemorrhage: Uned States, 1994-2006. Am J Obstet Gynecol. 2010 Apr;202(4):353.e1-6. do 10.1016/j.ajog.2010.01.011.
Osterman MJ, Mart JA. Epural and spal anesthes use durg labor: 27-state reportg area, 2008. Natl Val Stat Rep. 2011 Apr 6;59(5):1-13, 16.
Osterman MJ, Mart JA, Mathews TJ, Hamton BE. Expanded data from the new bth certate, 2008. Natl Val Stat Rep. 2011 Jul 27;59(7):1-28.
Centers for Dease Control and Preventn (CDC). Update on overall prevalence of major bth defects--Atlanta, Georg, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008 Jan 11;57(1):1-5.
Wcox AJ, Weberg CR, O'Connor JF, Bad DD, Schlatterer JP, Canfld RE, Armstrong EG, Nula BC. cence of early loss of pregnancy. N Engl J Med. 1988 Jul 28;319(4):189-94. do 10.1056/NEJM198807283190401.
Jones RK, Jerman J. Abortn cence and serve avaaby the Uned States, 2011. Perspect Sex Reprod Health. 2014 Mar;46(1):3-14. do 10.1363/46e0414. Epub 2014 Feb 3.
Ory SJ. The natnal epem of multle pregnancy and the contrutn of assted reproducte technology. Fert Ster. 2013 Oct;100(4):929-30. do 10.1016/j.fertnstert.2013.06.004. Epub 2013 Jul 19. No abstract avaable.
Jebee, H et al. A systemat revw and meta-analys of energy take and weht ga pregnancy. stute of Mede, Food and Nutrn Board, Commtee on Nutrnal Status Durg Pregnancy, part Nutrnal Status and Weht Ga. Natnal Academy Press, Washgton, DC 2000. Am J Obstet Gynecol 12(2015).
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Mchell AA, Gboa SM, Werler MM, Kelley KE, Lou C, Hernandez-Dz S; Natnal Bth Defects Preventn Study. Medatn use durg pregnancy, wh partular focus on prescrtn drugs: 1976-2008. Am J Obstet Gynecol. 2011 Jul;205(1):51.e1-8. do 10.1016/j.ajog.2011.02.029. Epub 2011 Apr 22.
Pregnancy in Osteogenesis Imperfecta (OI) Registry

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03072303Test

المؤلفون: Rare Diseases Clinical Research Network, National Heart, Lung, and Blood Institute (NHLBI)

المساهمون: Nishant Gupta, MD, MS, Adjunct Assistant Professor

المصدر: Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03040115Test

المؤلفون: Rare Diseases Clinical Research Network, National Heart, Lung, and Blood Institute (NHLBI)

المساهمون: Nishant Gupta, MD, MS, Assistant Professor

المصدر: Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03052101Test

Other URLs: https://redcapTest.research.cchmc.org/surveys/?s=C7EY4WNPEY

المؤلفون: Rare Diseases Clinical Research Network, National Institute of Neurological Disorders and Stroke (NINDS)

المساهمون: Jirair Krikor Bedoyan, Associate Professor

المصدر: DeBrosse SD, Okaja K, Zhang S, NakouzG, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS. Spectrum of neurologal and surval outcomes pyruvate dehydrogenase complex (PDC) defncy: lack of correlatn wh genotype. Mol Genet Metab. 2012 Nov;107(3):394-402. do 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.
Huang X, Bedoyan JK, Dembas D, Harr DJ, Mon A, Edelhe S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm Berry GT. Succyl-CoA synthetase (SUCLA2) defncy two slgs wh paed acty of other mochondrl oxate enzymes skeletal muscle whout mochondrl DNA depletn. Mol Genet Metab. 2017 Mar;120(3):213-222. do 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12.
Bedoyan JK, Yang SP, Ferdandusse S, Jack RM, Mon A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Lethal neonatal case and revw of prary short-cha enoyl-CoA hydratase (SCEH) defncy assocted wh secondary lymphocyte pyruvate dehydrogenase complex (PDC) defncy. Mol Genet Metab. 2017 Apr;120(4):342-349. do 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2.
Ferdandusse S, Frderh MW, Burla A, Ruer JP, Coughl CR 2nd, Dhop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfld K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clal and bchemal characteratn of four patnts wh mutatns ECHS1. Orphanet J Rare D. 2015 Jun 18;10:79. do 10.1186/s13023-015-0290-1.
Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Somat mosam for a novel PDHA1 mutatn a male wh severe pyruvate dehydrogenase complex defncy. Mol Genet Metab Rep. 2014 Aug 28;1:362-367. do 10.1016/j.ymgmr.2014.08.001. eCollectn 2014.
Sh HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK. Enzymat testg sensy, varby and practal dgnost algorhm for pyruvate dehydrogenase complex (PDC) defncy. Mol Genet Metab. 2017 Nov;122(3):61-66. do 10.1016/j.ymgme.2017.09.001. Epub 2017 Sep 8.
Bedoyan JK, Hecht L, Zhang S, Tarrant S, Berg A, Dembas D, Yang E, Sh HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. A novel null mutatn the pyruvate dehydrogenase phosphatase catalyt subun gene (PDP1) causg pyruvate dehydrogenase complex defncy. JD Rep. 2019 Jun 17;48(1):26-35. do 10.1002/jmd2.12054. eCollectn 2019 Jul.
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03056794Test