Search Results - "Labarthe F"

Clinical features, disease severity, and outcomes of pertussis in hospitalized children: A retrospective study from Serbia.

Authors: Basa, Mihail Visekruna, Jelena Grba, Tijana et al.

Source: PLoS ONE. 6/26/2026, Vol. 21 Issue 6, p1-13. 13p.

Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestations.

Authors: de Laitre A Barth M Labarthe F et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Aug; Vol. 148 (4), pp. 110184. Date of Electronic Publication: 2026 Jun 07.

Publication Type: Journal Article; Systematic Review; Case Reports; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study.

Authors: Blin M Tardieu M Lacombe D et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 12; Vol. 20 (1), pp. 581. Date of Electronic Publication: 2025 Nov 12.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report.

Authors: Gragnaniello, Vincenza Pozza, Alice Cazzorla, Chiara et al.

Source: Reports (MDPI AG). Mar2026, Vol. 9 Issue 1, p31. 10p.

Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine.

Authors: AlMalki, Reem Aleidi, Shereen M. Al Mogren, Maha et al.

Source: Molecules. Jun2026, Vol. 31 Issue 12, p2000. 15p.

Virgin Coconut Oil Attenuates Diabetic Kidney Disease via Gut Microbiota‐Metabolism‐Inflammation Axis Modulation in Type 2 Diabetic Mice.

Authors: Shao, Keke Cao, Yun Gao, Ruiqi et al.

Source: Food Science & Nutrition. Jun2026, Vol. 14 Issue 6, p1-19. 19p.

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.

Authors: Dos Santos Y Trefz F Giżewska M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Apr 02; Vol. 20 (1), pp. 156. Date of Electronic Publication: 2025 Apr 02.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Author index

Source: European Journal of Heart Failure. Supplements. Jun2004, Vol. 2 Issue 1, p189. 14p.

HIGHLY RESPONSIVE AND ACCURATE TEMPERATURE MEASUREMENTS IN ORTHOGONAL CUTTING THROUGH INNOVATIVE SINGLE LEG THERMOCOUPLE.

Authors: Hamm, I. Rossi, F. Poulachon, G. et al.

Source: MM Science Journal; Jul2021, p4660-4666, 7p

The Use of Metabolomes in Risk Stratification of Patients with Heart Failure: A Scoping Review.

Authors: Adamu, Umar G. Badianyama, Marheb Mayisela, Minenhle et al.

Source: Life (2075-1729). Mar2026, Vol. 16 Issue 3, p514. 18p.

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

Authors: Guertin A Khanna RK Tardieu M et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Nov 27; Vol. 45, pp. 101279. Date of Electronic Publication: 2025 Nov 27 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria.

Authors: Gonzalez-Rodriguez, Arnau Barrau-Martinez, Blanca Pané, Adriana et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 24, p11808. 22p.

Chondroitin 4-Sulfate Disaccharide-Based Inhibitors of Cathepsin S.

Authors: David, Alexis Domain, Roxane Surback, Florian et al.

Source: Polysaccharides (2673-4176). Dec2025, Vol. 6 Issue 4, p99. 17p.

Mechanical unloading is accompanied by reverse metabolic remodelling in the failing heart: Identification of a novel citraconate‐mediated pathway.

Authors: Kaye, David M. Wang, Xiao Suo Koay, Yen Chin et al.

Source: European Journal of Heart Failure. Jul2025, Vol. 27 Issue 7, p1342-1352. 11p.

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

Authors: Estevez Barcia, Rebeca Colón, Cristóbal Hermida-Ameijeiras, Álvaro et al.

Source: International Journal of Molecular Sciences. Jul2026, Vol. 27 Issue 13, p5726. 25p.

Evidence of Oxytosis/Ferroptosis in Niemann–Pick Disease Type C.

Authors: Sanchez, Kayla L. Kim, Jeanyoung White, Jacob B. et al.

Source: International Journal of Molecular Sciences. Apr2025, Vol. 26 Issue 7, p2915. 13p.

Infection of Enterocytozoon bieneusi in a Patient with Long-Term Immunosuppression after Liver Transplantation: A Case Report and Literature Review.

Authors: Hong, Xiaohua Zeng, Lei Li, Qiong et al.

Source: Case Reports in Gastroenterology. 2025, Vol. 19 Issue 1, p556-567. 12p.

A diversity-aware recommendation system for tutoring.

Authors: Achón, Laura De Souza, Ana Hume, Alethia et al.

Source: AI Communications; 2024, Vol. 37 Issue 4, p711-733, 23p

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.

Authors: Renous AS Damaj L Gorce M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 31; Vol. 20 (1), pp. 149. Date of Electronic Publication: 2025 Mar 31.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Homocystinuria in a 14-year-old girl with neurodevelopmental delay.

Authors: Mureau N Chapart F Perivier M et al.

Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2025 Mar; Vol. 48 (3), pp. 104386. Date of Electronic Publication: 2024 Dec 13.

Publication Type: Letter

Journal Info: Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597 (Electronic) Linking ISSN: 01815512 NLM ISO Abbreviation: J Fr Ophtalmol Subsets: MEDLINE; In Process