Mots-clés
BDSP5 Thésaurus > Pathologie > Enzymopathie
Enzymopathie
Commentaire :
#3-2001. Carence enzymatique héréditaire
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Documents disponibles dans cette catégorie (18)

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Cassandra-N SPRACKLEN ; Caitlin-J Smith ; Department of Epidemiology, University of Iowa (Iowa City IA, Etats-Unis) ; Audrey-F SAFTLAS ; Jennifer-G ROBINSON ; Kelli-K RYCKMAN |[BDSP. Notice produite par INIST-CNRS q9BIR0x7. Diffusion soumise à autorisation]. Published reports examining lipid levels during pregnancy and preeclampsia have been inconsistent. The objective of this meta-analysis was to test the association[...]![]()
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Patrick-F CHINNERY ; Hannah-R ELLIOTT ; Gavin HUDSON ; Caroline-L RELTON ; SAMUELS (David-C) : USA. Center for Human Genetics Research. Department of Molecular Physiology and Biophysics. Vanderbilt University Medical Center. Nashville. TN. ; Institute of Genetic Medicine. Newcastle University. Newcastle upon Tyne. GBR |[BDSP. Notice produite par INIST-CNRS 7kGGR0xt. Diffusion soumise à autorisation]. Over the last two decades, the mutation of mitochondrial DNA (mtDNA) has emerged as a major cause of inherited human disease. The disorders present clinically in [...]![]()
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JORDAN-YOUNG (Rebecca-M) : USA. Department of Women's. Gender. And Sexuality Studies. Barnard College. Columbia University. New York. NY. ; Lisa-M Bates ; HANKISKY (Olena) / éd. : CAN. Simon Fraser University. ; Kristen-W Springer |[BDSP. Notice produite par INIST-CNRS IR0xjB88. Diffusion soumise à autorisation]. Brain organization theory suggests that steroid hormones during fetal development permanently organize the brain for gender, including patterns of sexuality, cogn[...]![]()
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. YING RONG ; . DI WANG ; HU (Frank-B) : USA. Department of Nutrition and Epidemiology. Harvard School of Public Health. Boston. MA. ; . LIEGANG LIU ; . MIN FANG ; . PING YAO ; . SHUANG RONG ; . WEI BAO ; Department of Nutrition and Food Hygiene. School of Public Health. Tongji Medical College. Huazhong University of Science and Technology. Wuhan. CHN ; Ministry of Education. Key Lab of Environment and Health. School of Public Health. Tongji Medical College. Huazhong University of Science and Technology. Wuhan. CHN |[BDSP. Notice produite par INIST-CNRS R0x78r8J. Diffusion soumise à autorisation]. The hemochromatosis gene (HFE) has been involved in the etiology of type 2 diabetes mellitus and investigated in numerous epidemiologic studies. The current meta-[...]![]()
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ROCHAT (Roger-W) : USA. Hubert Department of Global Health. Rollins School of Public Health. Emory University. Atlanta. GA. ; Susan-Y CHU ; FOEGE (William-H) : USA. Bill and Melinda Gates Foundation. Seattle. WA. ; Clark-Wjr HEATH ; KOPLAN (Jeffrey-P) : USA. Emory global Health Institute. Emory University. Atlanta. GA. ; Polly-A MARCHBANKS ; Division of Reproductive Health. National Center for Chronic Disease Prevention and Health Promotion. Cdc. Atlanta. GA. USA |[BDSP. Notice produite par INIST-CNRS R0xABFpG. Diffusion soumise à autorisation]. In this article, the authors focus on epidemic-assistance investigations that dealt with maternal and child health problems, including unintended and adolescent p[...]![]()
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[BDSP. Notice produite par ORSRA R0xAoIJ9. Diffusion soumise à autorisation]. Entre 250 000 et 450 000 Français sont atteints d'une anomalie génétique, le déficit en l'enzyme de la G6PD, mal connu des praticiens, qui ne pensent pas à en recherch[...]![]()
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MINELLI (Cosetta) : ITA. Institute of Genetic Medicine. Eurac Research. Bolzano. ; Raquel GRANELL ; HENDERSON (John-A) : GBR. Department of Community-based Medicine. University of Bristol. Bristol. ; John-W HOLLOWAY ; Roger NEWSON ; Sue-M RING ; Matthew-J ROSE-ZERILLI ; Seif-O SHAHEEN ; TORRENT (Maties) : ESP. Ib-salut Menorca Health Area and Fundacio Caubet-Cimera. Balearic Islands. ; Divisions of Human Genetics and Inflammation Infection and Immunity. School of Medicine. University of Southampton. Southampton. GBR ; Respiratory Epidemiology and Public Health Group. National Heart and Lung Institute. Imperial College London. London. GBR |[BDSP. Notice produite par INIST-CNRS 8R0xErsk. Diffusion soumise à autorisation]. Background Oxidative stress is thought to be involved in the pathogenesis of asthma. Glutathione-S-transferase (GST) enzymes, which play an important role in anti[...]![]()
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Mcarolina PARDO SILVA ; Behrooz-Z ALIZADEH ; Albert HOFMAN ; Acecile-Jw JANSSENS ; Omer-T NJAJOU ; Cornelia-M VAN DUIJN ; Jacqueline-Cm WITTEMAN ; Department of Epidemiology. Erasmus University Medical Center Rotterdam. Rotterdam. NLD |[BDSP. Notice produite par INIST-CNRS 9JR0xC8C. Diffusion soumise à autorisation]. The purpose of the present study is to examine HFE gene mutations in relation to newly diagnosed (incident) coronary heart disease (CHD). In a population-based fo[...]![]()
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P.J. CASTALDI ; A.F. BARKER ; M.L. BRANTLY ; E.J. CAMPBELL ; D.L. DEMEO ; E. EDEN ; J.L. GRIFFITH ; D.M. KENT ; N.G. MCELVANEY ; S.I. RENNARD ; R.A. SANDHAUS ; E.K. SILVERMAN ; J.M. STOCKS ; J.K. STOLLER ; C. STRANGE ; G. TURINO ; Channing Laboratory and Division of Pulmonary and Critical Care Medicine. Brigham and Women's Hospital and Harvard Medical School. Boston. MA. USA ; Institute for Clinical Research and Health Policy Studies. Tufts Medical Center. Boston. MA. USA ; St Luke's. Roosevelt Hospital. New York City. NY. USA |[BDSP. Notice produite par INIST-CNRS IJR0xqFk. Diffusion soumise à autorisation]. Alpha-1-antitrypsin deficiency is a genetic condition associated with severe, early-onset chronic obstructive pulmonary disease (COPD). However, there is signific[...]![]()
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Michele-L COTE ; Simone Benhamou ; Christine BOUCHARDY ; Dorota BUTKIEWICZ ; Kwun-M FONG ; Manuel GENE ; Ari HIRVONEN ; Chikako KIYOHARA ; Jill-E LARSEN ; . PING YANG ; . PINPIN LIN ; Andrew-C POVEY ; Ole RAASCHOU-NIELSEN ; Edyta RESZKA ; Angela RISCH ; Joachim Schneider ; Ann-G SCHWARTZ ; Daryn-W Smith ; Mette SORENSEN ; Emanuela TAIOLI ; Jordi TO-FIGUERAS ; Shinkan TOKUDOME ; . WEI CHEN ; Angela-S WENZLAFF ; Harriet WIKMAN ; . YUEPU PU ; Population Studies and Prevention. Karmanos Cancer Institute. Internal Medicine. Wayne State University School of Medicine. Detroit. MI. USA |[BDSP. Notice produite par INIST-CNRS lpDpHR0x. Diffusion soumise à autorisation]. Lung cancer is the most common cancer worldwide. Polymorphisms in genes associated with carcinogen metabolism may modulate risk of disease. Glutathione S-transfer[...]![]()
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Gabriella-A HORVATH ; ANDRESEN (B.S.) : DNK. Research Unit for Molecular Medicine. Aarhus University Hospital and Institute of Human Genetics. Aarhus University. Aarhus. ; A.G.F. DAVIDSON ; Yolanda-P LILLQUIST ; Judie NELSON ; OLPIN (S.) : GBR. Department of Clinical Chemistry. Sheffield Children's Hospital. Sheffield. ; Jan PALATY ; Sylvia-G STOCKLER-IPSIROGLU ; Hilary VALLANCE ; Paula-J WATERS ; Department of Pathology and Laboratory Medicine. Children's & Women's Health Centre of British Columbia. Vancouver. CAN ; Division of Biochemical Diseases. British Columbia Children's Hospital. Vancouver. BC. CAN |[BDSP. Notice produite par INIST-CNRS mF78R0xA. Diffusion soumise à autorisation]. Contexte : Le déficit en acyl-coenzyme A déshydrogénase (DACAD) des acides gras à chaîne moyenne est un trouble autosomique récessif d'oxydation des acides gras q[...]![]()
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Eliane KELLEN ; Karin BROBERG ; Frank BUNTINX ; Klaus GOLKA ; Marjolein HEMELT ; Rayjean-J HUNG ; . JIANHUA SHEN ; Vessela-Nedelcheva KRISTENSEN ; Giuseppe MATULLO ; Rama-D MITTAL ; Stefano PORRU ; Andrew POVEY ; Wolfgang-A SCHULZ ; Emanuela TAIOLI ; Maurice-P ZEEGERS ; Katholieke Universiteit Leuven. Comprehensive Cancer Institute. Department of General Practice. Limburg. BEL ; University of Birmingham. Department of Public Health and Epidemiology. Unit of Genetic Epidemiology. Birmingham. GBR |[BDSP. Notice produite par INIST-CNRS ztzw6R0x. Diffusion soumise à autorisation]. The glutathione S-transferase P1 genotype (GSTP1) is involved in the inactivation of cigarette smoke carcinogens, and sequence variation in the gene may alter bla[...]![]()
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Victor-M CARDENAS ; GRAHAM (David-Y) : USA. Gastroenterology Section. Baylor College of Medicine. Houston. TX. ; MULLA (Zuber-D) : USA. Department of Obstetrics and Gynecology. Texas Tech University Health Sciences Center. El Paso. TX. ; Melchor Ortiz ; University of Texas School of Public Health. Division of Epidemiology. El Paso. TX. USA |[BDSP. Notice produite par INIST-CNRS 3YKR0x46. Diffusion soumise à autorisation]. Using data from the current National Health and Nutrition Examination Survey (1999-2000), the authors assessed whether Helicobacter pylori infection is associated[...]![]()
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Omer-T NJAJOU ; Behrooz-Z ALIZADEH ; Cornelia-M VAN DUIJN ; Erasmus Medical Centre. Departments of Epidemiology and Biostatistics and Clinical Genetics. Genetic Epidemiology Unit. Rotterdam. NLD |[BDSP. Notice produite par INIST-CNRS dR0xw0RL. Diffusion soumise à autorisation]. Hereditary hemochromatosis is an iron overload disorder and is the most common recessive disease in Caucasians. About 80% of hemochromatosis patients are homozygo[...]![]()
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Carole-L BUTLER ; Ihunnaya-O FREDERICK ; LEISENRING (Wendy-M) : USA. Fred Hutchinson Cancer Research Center. Seattle. WA. ; SORENSEN (Tanya-K) : USA. Obstetrix Medical Group. Seattle. WA. ; Michelle-A Williams ; Swedish Medical Center. Center for Perinatal Studies. Seattle. WA. USA |[BDSP. Notice produite par INIST-CNRS C7R0xgVI. Diffusion soumise à autorisation]. The authors examined the relation between recreational physical activity and plasma lipid concentrations in early pregnancy. Between 1996 and 2000,925 normotensiv[...]