Found: 36
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Management of pregnancy in a patient with congenital hyperinsulinism treated with association of diazoxide/calcium channel blocker.
- Published in:
- Acta Diabetologica, 2022, v. 59, n. 8, p. 1117, doi. 10.1007/s00592-022-01898-9
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- Publication type:
- Article
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
- Published in:
- 2018
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- Publication type:
- journal article
Plasma Methionine and Clinical Severity in Nitrous Oxide Consumption.
- Published in:
- Toxics, 2023, v. 11, n. 1, p. 12, doi. 10.3390/toxics11010012
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- Publication type:
- Article
Determination and Prescription of the Best Perceived Exercise Modality in Obese Subjects with/without Type 2 Diabetes.
- Published in:
- Diabetes, 2007, v. 56, p. A367
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- Publication type:
- Article
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
- Published in:
- 2005
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- Publication type:
- journal article
LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells.
- Published in:
- European Journal of Endocrinology, 2021, v. 184, n. 1, p. 155, doi. 10.1530/EJE-20-1013
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- Publication type:
- Article
Mediation of Interleukin‐23 and Tumor Necrosis Factor–Driven Reactive Arthritis by Chlamydia‐Infected Macrophages in SKG Mice.
- Published in:
- Arthritis & Rheumatology, 2021, v. 73, n. 7, p. 1200, doi. 10.1002/art.41653
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- Publication type:
- Article
A case of pink urine associated with abdominal pain crisis.
- Published in:
- Annales de Biologie Clinique, 2022, v. 80, n. 4, p. 389, doi. 10.1684/abc.2022.1743
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- Publication type:
- Article
Marqueurs biologiques et impact métabolique de la consommation chronique de protoxyde d'azote.
- Published in:
- Annales de Biologie Clinique, 2022, v. 80, n. 3, p. 209, doi. 10.1684/abc.2022.1729
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- Publication type:
- Article
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 4, p. 2237, doi. 10.1007/s00415-023-11570-z
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- Publication type:
- Article
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 2, p. 531, doi. 10.1007/s00415-019-09608-2
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- Publication type:
- Article
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 8, p. 2043, doi. 10.1007/s00415-019-09377-y
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- Publication type:
- Article
Acid sphingomyelinase deficiency in France: a retrospective survival study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
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- Publication type:
- Article
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
- Published in:
- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0233460
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- Publication type:
- Article
Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label, controlled study.
- Published in:
- 2017
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- Publication type:
- journal article
Endocrine manifestations related to inherited metabolic diseases in adults.
- Published in:
- 2012
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- Publication type:
- journal article
Hypoglycaemia related to inherited metabolic diseases in adults.
- Published in:
- 2012
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- Publication type:
- journal article
Hypoglycaemia related to inherited metabolic diseases in adults.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 26, doi. 10.1186/1750-1172-7-26
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- Publication type:
- Article
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1199, doi. 10.1002/jimd.12403
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- Publication type:
- Article
Long term outcome of MPI‐CDG patients on D‐mannose therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1360, doi. 10.1002/jimd.12289
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- Publication type:
- Article
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 273, doi. 10.1007/s10545-015-9904-y
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- Publication type:
- Article
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 859, doi. 10.1007/s10545-012-9560-4
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- Publication type:
- Article
Erratum to: Laparoscopic adrenalectomy by transabdominal lateral approach: 20 years of experience.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Laparoscopic adrenalectomy by transabdominal lateral approach: 20 years of experience.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Very High Plasma Homocysteine without Malnutrition or Inherited Disorder.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 11, p. 1468, doi. 10.1093/clinchem/hvaa070
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- Publication type:
- Article
Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient.
- Published in:
- 2021
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- Publication type:
- Case Study
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.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 110, doi. 10.1002/jmd2.12207
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- Publication type:
- Article
Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 17, doi. 10.1002/jmd2.12096
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- Publication type:
- Article
Prediction of peak oxygen uptake from sub-maximal ratings of perceived exertion elicited during a graded exercise test in obese women.
- Published in:
- Psychophysiology, 2009, v. 46, n. 6, p. 1150, doi. 10.1111/j.1469-8986.2009.00863.x
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- Publication type:
- Article
Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome.
- Published in:
- 2008
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- Publication type:
- Essay
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 5, p. 1233, doi. 10.3390/jcm11051233
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- Publication type:
- Article
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11040920
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- Publication type:
- Article
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
Low hormone levels during an attack of systemic capillary leak syndrome normalizing after treatment.
- Published in:
- Hormone Molecular Biology & Clinical Investigation, 2020, v. 41, n. 3, p. 1, doi. 10.1515/hmbci-2020-0004
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- Publication type:
- Article
Foetal exposure to mitotane/Op'DDD: Post‐natal study of four children.
- Published in:
- Clinical Endocrinology, 2018, v. 89, n. 6, p. 805, doi. 10.1111/cen.13854
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- Publication type:
- Article
Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 2, p. 1, doi. 10.1111/ene.16138
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- Publication type:
- Article