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Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 11/2019, Volume 17, Issue 11, pp. 1798 - 1807
Background Congenital disorders of glycosylation are rare inherited diseases affecting many different proteins. The lack of glycosylation notably affects the... 
congenital disorder of glycosylation | coagulation disorder | thrombin generation assay | Phenotypes | Congenital diseases | Coagulation | Thrombin | Protein C | Glycosylation | Antithrombin | Thrombosis | Hereditary diseases | Coagulation factors | Proteins | Genotype & phenotype | Protein S | Thrombomodulin
Journal Article
Pediatric Research, ISSN 0031-3998, 02/2019, Volume 85, Issue 3, pp. 384 - 389
BACKGROUND: Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. If most of... 
VISUALIZATION | WIDESPREAD | SYSTEM | CONGENITAL DISORDERS | PEDIATRICS | MESSENGER-RNA DECAY | GLYCOSYLATION
Journal Article
02/2012, ISBN 9782817800455, 478
Cet ouvrage très novateur, consacré des maladies métaboliques, propose une conduite à tenir, très précise, face à une situation métabolique donnée. En effet,... 
Metabolism | Disorders
eBook
NANOMEDICINE, ISSN 1743-5889, 06/2019, Volume 14, Issue 12, pp. 1579 - 1593
Creatine transporter (CrT) deficiency is an X-linked intellectual disability caused by mutations of CrT. Aim: This work focus on the preclinical development of... 
creatine transporter deficiency | NANOSCIENCE & NANOTECHNOLOGY | drug delivery | FORMULATION | DELIVERY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | creatine | dodecyl creatine ester | NOSE | MICE | microemulsion | nasal administration | neurotherapeutics for CTD
Journal Article
Journal Article
Anti-Cancer Drugs, ISSN 0959-4973, 03/2019, Volume 30, Issue 3, pp. 313 - 317
For several decades, 5-Fluorouracil (5-FU) has been the backbone of many chemotherapy regimens for various tumor types. Its most common side effects are... 
5-fluorouracil | metabolomic disease | ONCOLOGY | UREA CYCLE DISORDERS | PHARMACOLOGY & PHARMACY | cancer | INFUSION | hyperammonemic encephalopathy | Krebs cycle
Journal Article
The Journal of clinical endocrinology and metabolism, ISSN 0021-972X, 08/2017, Volume 102, Issue 8, p. 2914
Journal Article
2013, ISBN 9782817800455
Cet ouvrage tres novateur, consacre des maladies metaboliques, propose une conduite a tenir, tres precise, face a une situation metabolique donnee. En effet,... 
Pre-clinical Medicine: Basic Sciences
eBook
Journal of Pediatrics, ISSN 0022-3476, 05/2011, Volume 158, Issue 5, p. 867
Journal Article
BMJ Open, ISSN 2044-6055, 11/2019, Volume 9, Issue 11, p. e032498
ObjectiveIn France, immigrants with chronic diseases encounter numerous difficulties in gaining access to care and then in its initiation and organisation,... 
Qualitative research | Social sciences | Professionals | Mental health | Patients | Mediation | Multiculturalism & pluralism | Mediators | Human immunodeficiency virus--HIV | Palliative care | Teams | Health care access | Internet | Psychiatry | Culture | Chronic illnesses
Journal Article
Epileptic Disorders, ISSN 1294-9361, 03/2017, Volume 19, Issue 1, pp. 15 - 23
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 05/2011, Volume 158, Issue 5, p. 867
Journal Article
Bulletin de l'Academie Nationale de Medecine, ISSN 0001-4079, 01/2009, Volume 193, Issue 1, pp. 19 - 43
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 2011, Volume 158, Issue 5, pp. 867 - 867
Journal Article
Medecine Therapeutique Pediatrie, ISSN 1286-5494, 07/2013, Volume 16, Issue 3, pp. 238 - 251
Journal Article
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