116 related articles for article (PubMed ID: 10881656)
1. [Information and retrieval diagnostic system for inherited metabolic diseases].
Krasnopol'skaia KD; Evdokimenkov VN; Tishkanina SV
Vestn Ross Akad Med Nauk; 2000; (5):11-9. PubMed ID: 10881656
[TBL] [Abstract][Full Text] [Related]
2. [Use of an information-search diagnostic system for recognizing acute hereditary metabolic diseases with early lethal outcomes].
Krasnopol'skaia KD; Sakhibzadaeva KK; Goncharova IA; Chebotarev AN
Genetika; 1994 Nov; 30(11):1563-5. PubMed ID: 7883163
[TBL] [Abstract][Full Text] [Related]
3. U-IMD: the first Unified European registry for inherited metabolic diseases.
Opladen T; Gleich F; Kozich V; Scarpa M; Martinelli D; Schaefer F; Jeltsch K; Juliá-Palacios N; García-Cazorla Á; Dionisi-Vici C; Kölker S
Orphanet J Rare Dis; 2021 Feb; 16(1):95. PubMed ID: 33602304
[TBL] [Abstract][Full Text] [Related]
4. [Genetic diagnosis of monogenic inherited endocrine and metabolic diseases: from bench to bedside].
Ning G
Zhonghua Nei Ke Za Zhi; 2006 Jun; 45(6):445-6. PubMed ID: 16831316
[No Abstract] [Full Text] [Related]
5. Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.
Masseroli M; Galati O; Manzotti M; Gibert K; Pinciroli F
BMC Bioinformatics; 2005 Dec; 6 Suppl 4(Suppl 4):S18. PubMed ID: 16351744
[TBL] [Abstract][Full Text] [Related]
6. Relevance of the Human Genome Project to inherited metabolic disease.
Burn J
J Inherit Metab Dis; 1994; 17(4):421-9. PubMed ID: 7967492
[TBL] [Abstract][Full Text] [Related]
7. Ontological phenotype standards for neurogenetics.
Köhler S; Doelken SC; Rath A; Aymé S; Robinson PN
Hum Mutat; 2012 Sep; 33(9):1333-9. PubMed ID: 22573485
[TBL] [Abstract][Full Text] [Related]
8. Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases.
Cazzorla C; Del Rizzo M; Burgard P; Zanco C; Bordugo A; Burlina AB; Burlina AP
Mol Genet Metab; 2012 May; 106(1):25-30. PubMed ID: 22398241
[TBL] [Abstract][Full Text] [Related]
9. Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.
Sulaiman RA; Al-Owain M
Eur J Med Genet; 2019 Nov; 62(11):103562. PubMed ID: 31610876
[TBL] [Abstract][Full Text] [Related]
10. Quebec's genetic network one of the best.
de Grandpré L
Can Med Assoc J; 1974 Nov; 111(10):1153-5. PubMed ID: 4429944
[No Abstract] [Full Text] [Related]
11. GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene lists.
Masseroli M; Galati O; Pinciroli F
Nucleic Acids Res; 2005 Jul; 33(Web Server issue):W717-23. PubMed ID: 15980570
[TBL] [Abstract][Full Text] [Related]
12. PhenoTips: patient phenotyping software for clinical and research use.
Girdea M; Dumitriu S; Fiume M; Bowdin S; Boycott KM; Chénier S; Chitayat D; Faghfoury H; Meyn MS; Ray PN; So J; Stavropoulos DJ; Brudno M
Hum Mutat; 2013 Aug; 34(8):1057-65. PubMed ID: 23636887
[TBL] [Abstract][Full Text] [Related]
13. Recent research on inherited metabolic diseases in children.
Li YJ; Kan X
Zhongguo Dang Dai Er Ke Za Zhi; 2022 Mar; 24(3):326-331. PubMed ID: 35351266
[TBL] [Abstract][Full Text] [Related]
14. Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.
Moutapam-Ngamby-Adriaansen Y; Maillot F; Labarthe F; Lioger B
Orphanet J Rare Dis; 2024 Feb; 19(1):65. PubMed ID: 38355710
[TBL] [Abstract][Full Text] [Related]
15. [Automated genetic register and computer support for the physician's diagnostic decisions].
Kobrinskiĭ BA; Kazantseva LZ; Fel'dman AE; Babichev EM; Belitskaia TT; Belova NA; Kudriavtsev AM; Nikolaeva EA; Novikov PV; Semiachkina AN
Genetika; 1993 Oct; 29(10):1733-40. PubMed ID: 8307362
[TBL] [Abstract][Full Text] [Related]
16. DECIDE: a user friendly web-based service for early diagnosis and research on Alzheimer's disease.
Galeazzi F; Tanlongo F; Ardizzone V
Stud Health Technol Inform; 2012; 175():108. PubMed ID: 22941998
[No Abstract] [Full Text] [Related]
17. Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Tingley K; Lamoureux M; Pugliese M; Geraghty MT; Kronick JB; Potter BK; Coyle D; Wilson K; Kowalski M; Austin V; Brunel-Guitton C; Buhas D; Chan AKJ; Dyack S; Feigenbaum A; Giezen A; Goobie S; Greenberg CR; Ghai SJ; Inbar-Feigenberg M; Karp N; Kozenko M; Langley E; Lines M; Little J; MacKenzie J; Maranda B; Mercimek-Andrews S; Mohan C; Mhanni A; Mitchell G; Mitchell JJ; Nagy L; Napier M; Pender A; Potter M; Prasad C; Ratko S; Salvarinova R; Schulze A; Siriwardena K; Sondheimer N; Sparkes R; Stockler-Ipsiroglu S; Trakadis Y; Turner L; Van Karnebeek C; Vallance H; Vandersteen A; Walia J; Wilson A; Wilson BJ; Yu AC; Yuskiv N; Chakraborty P;
Orphanet J Rare Dis; 2020 Apr; 15(1):89. PubMed ID: 32276663
[TBL] [Abstract][Full Text] [Related]
18. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
Gariani K; Nascimento M; Superti-Furga A; Tran C
Orphanet J Rare Dis; 2020 Aug; 15(1):210. PubMed ID: 32811506
[TBL] [Abstract][Full Text] [Related]
19. RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.
Töpel T; Scheible D; Trefz F; Hofestädt R
Hum Mutat; 2010 Jan; 31(1):E1081-8. PubMed ID: 19953641
[TBL] [Abstract][Full Text] [Related]
20. [Diagnosis and differential diagnosis in multiple sclerosis].
Huber S; Kappos L
Praxis (Bern 1994); 1997 Jan; 86(3):46-54. PubMed ID: 9045284
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]