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'Gérer une situation interculturelle' : une compétence valorisant le développement interculturel de l'étudiant à l'Université.
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- Bildungsforschung, 2022, n. 1, p. 1
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- Article
Laparoscopic Tension-Free Repair of Anterior Abdominal Wall Incisional and Ventral Hernias with an Intraperitoneal Gore-Tex[sup ®] Mesh: Prospective Study and Review of the Literature.
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- Journal of Laparoendoscopic & Advanced Surgical Techniques, 2002, v. 12, n. 4, p. 263, doi. 10.1089/109264202760268041
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- Publication type:
- Article
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.
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- 2017
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- Publication type:
- journal article
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
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- 2017
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- Publication type:
- journal article
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0513-0
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- Article
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0266-1
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- Publication type:
- Article
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 58, doi. 10.1186/s13023-015-0266-1
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- Publication type:
- Article
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0219-0
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- Publication type:
- Article
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 39, doi. 10.1186/s13023-014-0219-0
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- Article
Congenital hyperinsulinism: current trends in diagnosis and therapy.
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- 2011
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- Publication type:
- journal article
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1247, doi. 10.3390/ijms21041247
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- Article
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 441, doi. 10.3390/ijms18020441
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- Article
Capillary haemangioma arising from the anterior choroidal artery.
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- Child's Nervous System, 2005, v. 21, n. 4, p. 265, doi. 10.1007/s00381-004-1085-1
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- Article
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
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- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2343, doi. 10.3390/jcm9082343
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- Article
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
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- 2022
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- Case Study
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
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- 2019
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- Publication type:
- journal article
High glucose intake and glycaemic level in critically ill neonates with inherited metabolic disorders of intoxication.
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- 2016
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- Publication type:
- journal article
Sleep‐disordered breathing in children with mucolipidosis.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1196, doi. 10.1002/ajmg.a.61167
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- Article
Markers of recurrence and long-term morbidity in craniopharyngioma: a systematic analysis of 171 patients.
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- 2012
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- Publication type:
- Journal Article
Adherent perinephric fat affects perioperative outcomes after partial nephrectomy: a systematic review and meta-analysis.
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- International Journal of Clinical Oncology, 2021, v. 26, n. 4, p. 636, doi. 10.1007/s10147-021-01871-6
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- Publication type:
- Article
Anterior screw fixation of type IIB odontoid fractures in octogenarians.
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- European Spine Journal, 2012, v. 21, n. 2, p. 335, doi. 10.1007/s00586-011-2044-7
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- Article
Brown-Sequard syndrome revealing intradural thoracic disc herniation.
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- European Spine Journal, 2011, v. 20, n. 1, p. 65, doi. 10.1007/s00586-010-1498-3
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- Publication type:
- Article
Primary liposarcoma of the thoracic spine: case report.
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- European Spine Journal, 2005, v. 14, n. 6, p. 613, doi. 10.1007/s00586-004-0866-2
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- Publication type:
- Article
Results of spinal meningioma surgery in patients with severe preoperative neurological deficits.
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- European Spine Journal, 2005, v. 14, n. 5, p. 440, doi. 10.1007/s00586-004-0809-y
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- Publication type:
- Article
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: <sup>1</sup>H NMR spectroscopy and genetic testing.
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- 2019
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- Publication type:
- journal article
Vendre à l'international: des compétences en réseau au service des PME.
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- Revue Management et Avenir, 2020, n. 120, p. 89, doi. 10.3917/mav.120.0089
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- Publication type:
- Article
Les commerciaux et les réseaux sociaux : vers de nouveaux outils de management des ventes.
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- Revue Management et Avenir, 2008, n. 16, p. 140, doi. 10.3917/mav.016.0140
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- Publication type:
- Article
PANCREATIC MICROCYSTIC ADENOMAS (GLYCOGEN-RICH CYSTADENOMAS). A CLINICOPATHOLOGIC STUDY OF 20 CASES.
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- HPB Surgery, 1993, v. 6, p. 114
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- Publication type:
- Article
SPECT and PET analysis of subthalamic stimulation in Parkinson’s disease: analysis using a manual segmentation.
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- Journal of Neurology, 2010, v. 257, n. 3, p. 375, doi. 10.1007/s00415-009-5327-8
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- Publication type:
- Article
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.
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- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11040920
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- Publication type:
- Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
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- Publication type:
- Article
Citrulline in the management of patients with urea cycle disorders.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02800-8
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- Publication type:
- Article
Successful treatment of congenital hyperinsulinism with long-acting release octreotide.
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- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 333, doi. 10.1530/EJE-11-0874
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- Article
Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 110, doi. 10.1002/jmd2.12207
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- Article
Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 25, doi. 10.1002/jmd2.12090
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- Article
How Do American, Chinese and French Students Characterize their Teachers' Communication?
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- Journal of Intercultural Communication, 2015, n. 38, p. 5
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- Publication type:
- Article
Des réfugiés passeurs de cultures témoignent sur YouTube.
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- ESSACHESS, 2022, v. 15, n. 1, p. 83, doi. 10.21409/E7F6-HK48
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- Publication type:
- Article
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
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- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02591-4
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- Publication type:
- Article
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
- Published in:
- 2022
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- Publication type:
- journal article
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey.
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- 2022
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- Publication type:
- journal article
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
- Published in:
- 2021
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- Publication type:
- journal article
Nevoid basal cell carcinoma syndrome: Relation with desmoplastic medulloblastoma in infancy.
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- Cancer (0008543X), 2003, v. 98, n. 3, p. 618
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- Publication type:
- Article
Gestion de l'exploitation agricole familiale et pratiques des agriculteurs: Vers une nouvelle théorie de la gestion.
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- Canadian Journal of Agricultural Economics, 1991, v. 39, n. 2, p. 119, doi. 10.1111/j.1744-7976.1991.tb03561.x
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- Publication type:
- Article
Long-term renal outcome in methylmalonic acidemia in adolescents and adults.
- Published in:
- 2021
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- Publication type:
- journal article
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-020-01577-4
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- Publication type:
- Article
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.
- Published in:
- 2021
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- Publication type:
- journal article
Successful treatment of severe MSUD in Bckdhb<sup>−/−</sup> mice with neonatal AAV gene therapy.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 41, doi. 10.1002/jimd.12604
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- Publication type:
- Article
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 649, doi. 10.1002/jimd.12592
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- Publication type:
- Article
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 937, doi. 10.1002/jimd.12525
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- Publication type:
- Article
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 215, doi. 10.1002/jimd.12452
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- Publication type:
- Article