Mots-clés
BDSP5 Thésaurus > Pathologie > Maladie héréditaire
Maladie héréditaireSynonyme(s)Maladie de Refsum ;Maladie de Usher Maladie Lysosomale |
Documents disponibles dans cette catégorie (212)
Article
Stefania BOCCIA ; Paolo BOFFETTA ; . DONGXIN LIN ; Matthias-Pa EBERT ; Jing-Yuan FANG ; . FANG FANG ZHANG ; Chang-Ming GAO ; Francesco GIANFAGNA ; Tobias GOTZE ; Francesco GRAZIANO ; . HONGBING SHEN ; Rayjean HUNG ; Marina LACASANA-NAVARRO ; Lizbeth LOPEZ-CARRILLO ; You-Lin QIAO ; Gualtiero RICCIARDI ; Rachael STOLZENBERG-SOLOMON ; Emanuela TAIOLI ; Toshiro TAKEZAKI ; Cornelia-M VAN DUIJN ; Yu-Rong WENG ; Department of Epidemiology. Jiangsu Province Institute of Cancer Research. Nanjing. CHN ; Department of Medicine 2. Klinikum rechts der Isar. Technical University of München. München. DEU ; Genetic Epidemiology Cluster. International Agency for Research on Cancer. Lyon. FRA ; Institute of Hygiene. Università Cattolica del Sacro Cuore. Rome. ITA ; Shanghai Institute of Digestive Disease. Shanghai Jiao-Tong University School of Medicine. Shanghai. CHN |[BDSP. Notice produite par INIST-CNRS R0xfq4V7. Diffusion soumise à autorisation]. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of folate, whose role in gastric carcinogenesis is controversial. The authors perfor[...]Article
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[...]Article
Candace CURRIE ; William BOYCE ; Bjorn HOLSTEIN ; Michal MOLCHO ; Matthias RICHTER ; Torbjorn TORSHEIM |[BDSP. Notice produite par INIST-CNRS R0xUaCd3. Diffusion soumise à autorisation]. Socioeconomic inequalities in adolescent health have been little studied until recently, partly due to the lack of appropriate and agreed upon measures for this a[...]Article
[BDSP. Notice produite par INIST-CNRS 7HqsDR0x. Diffusion soumise à autorisation]. Developments in biomedicine have remodelled the time-honoured questions of how to define the normal and the connection between the normal and the norm. This artic[...]Article
Parmi les protagonistes impliqués dans la prise en charge des patients atteints de maladie d'Alzheimer, et même si, le plus souvent, un " aidant principal " assure l'essentiel de la prise en charge du malade, toute la famille est impliquée et, d[...]Article
SAVAGE (Eileen) : IRL. University College Cork. Cork. ; CALLERY (Peter) : GBR. University of Manchester. |[BDSP. Notice produite par INIST-CNRS gvLR0xkG. Diffusion soumise à autorisation]. This paper examines clinic consultations on the dietary management of cystic fibrosis (CF) with particular consideration to the role of children. The role of pare[...]Article
Hélène-Wp VAN DEN NIEUWENHOFF ; Nanne-K DE VRIES ; Caroline GIELEN ; Ilse MESTERS ; University Maastricht. Maastricht. NLD |[BDSP. Notice produite par INIST-CNRS vgKR0xp0. Diffusion soumise à autorisation]. Inadequate family communication concerning hereditary lipid disorders by index patients (IPs) may prevent their biological relatives from seeking testing and trea[...]Article
Brian Williams ; Joanne COYLE ; Jon DOWELL ; Somnath MUKHOPADHYAY ; Division of Community Health Sciences. Ninewells Hospital and Medical School. Mackenzie Building. Scotland. GBR |[BDSP. Notice produite par INIST-CNRS R0xC35pS. Diffusion soumise à autorisation]. Although chest physiotherapy is central to the management of cystic fibrosis many report problems with adherence. Research in other long-term conditions suggests [...]Article
GIBSON (Barbara-E) : CAN. Department of Physical Therapy. University of Toronto. Toronto. ON. ; MCKEEVER (Patricia) : CAN. Faculty of Nursing. University of Toronto. Ont. ; UPSHUR (Ross-Eg) : CAN. Sunnybrook Health Sciences Centre. ; YOUNG (Nancy-L) : CAN. Laurentian University. |[BDSP. Notice produite par INIST-CNRS dbR0xNVG. Diffusion soumise à autorisation]. Men with Duchenne muscular dystrophy (DMD) are part of a growing population of community-dwelling persons dependent on life support technologies. This Canadian st[...]Article
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[...]Article
James-J GOEDERT ; ALEDORT (Louis-M) : USA. Mount Sinai School of Medicine. New York. NY. ; Bingshu-E CHEN ; PREISS (Liliana) : USA. Rti International. Rockville. MD. ; Philip-S ROSENBERG ; National Institutes of Health. National Cancer Institute. Division of Cancer Epidemiology and Genetics. Rockville. MD. USA ; Second Multicenter Hemophilia Cohort Study. USA |[BDSP. Notice produite par INIST-CNRS OepR0x6N. Diffusion soumise à autorisation]. Hepatitis C virus (HCV) is a blood-borne infection readily transmitted by transfusion. Persons with hemophilia were at very high risk of acquiring HCV, but the ch[...]Article
Tatjana PEKMEZOVIC ; Natasa DRAGASEVIC ; Irena DUJMOVIC-BASUROSKI ; Milica KECKAREVIC ; Vladimir-S KOSTIC ; Jelena MARIC ; Stanka ROMAC ; Marina SVETEL ; Institute of Neurology. Clinical Centre of Serbia. School of Medicine. University of Belgrade. Belgrade. SCG ; Pcr Centre. School of Biology. University of Belgrade. Belgrade. SCG |[BDSP. Notice produite par INIST-CNRS GR0x4CVH. Diffusion soumise à autorisation]. The objective of this study was to estimate probability of survival of Huntington's disease (HD) patients in Serbia as a function of CAG repeat length and selecte[...]Article
Sherry-I BRANDT-RAUF ; Jill-A CONTE ; Nathan-F DRUMMOND ; RAVEIS (Victoria-H) : USA. Center for the Psychosocial Study of Health and Illness. Mailman School of Public Health. Columbia University. ; ROTHMAN (Sheila-M) : USA. Mailman School of Public Health. ; Columbia University. College of Physicians and Surgeons. Center for the Study of Society and Medicine. New York. NY. USA |[BDSP. Notice produite par INIST-CNRS 6Nf8NR0x. Diffusion soumise à autorisation]. We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared[...]Article
Parveen BHATTI ; Deanna-M CHURCH ; Joni-L RUTTER ; Alice-J SIGURDSON ; Jeffery-P STRUEWING ; Us Department of Health and Human Services. National Institutes of Health. National Cancer Institute. Division of Cancer Epidemiology and Genetics. Radiation Epidemiology Branch. Bethesda. MD. USA |[BDSP. Notice produite par INIST-CNRS GK0R0xrr. Diffusion soumise à autorisation]. Single nucleotide polymorphisms (SNPs) are the most common form of human genetic variation, with millions present in the human genome. Because only 1% might be ex[...]Article
[BDSP. Notice produite par INIST-CNRS CP0aR0xA. Diffusion soumise à autorisation]. How, and to what extent, do patient organisations renew traditional forms of social participation and protest ? This question is examined, drawing on a socio-hist[...]