Search Results - "Labrune, P."

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.

Authors: Hogrel JY Fer F Ledoux I et al.

Source: Journal of neurology [J Neurol] 2026 May 04; Vol. 273 (5). Date of Electronic Publication: 2026 May 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Imlifidase enables AAV gene therapy in a seropositive Crigler-Najjar patient: On the verge of a paradigm shift.

Authors: Do Cao J Gao-Desliens J Valent A et al.

Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2026 May 06; Vol. 34 (5), pp. 2571-2572. Date of Electronic Publication: 2026 Apr 27.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE; In Process

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Authors: Marsili, Luisa Mantecon, Matthieu Arrondel, Christelle et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2823-2828. 6p.

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.

Authors: Montalvo-Romeral V Jauze L Perrot G et al.

Source: JHEP reports : innovation in hepatology [JHEP Rep] 2025 Dec 02; Vol. 8 (3), pp. 101702. Date of Electronic Publication: 2025 Dec 02 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101761237 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-5559 (Electronic) Linking ISSN: 25895559 NLM ISO Abbreviation: JHEP Rep Subsets: In Process

Author Index.

Source: Haemophilia. Feb2017 Supplement, Vol. 23, p142-147. 6p.

Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.

Authors: Zhang, Yang Cui, Liping Gao, Jian et al.

Source: BMC Pregnancy & Childbirth. 10/9/2025, Vol. 25 Issue 1, p1-6. 6p.

Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia.

Authors: Simsek, Deniz Turkum Atikcan Dursun, Elif Melek Avcı Ozcalik, Merve Senay et al.

Source: JCEM Case Reports. Oct2025, Vol. 3 Issue 10, p1-4. 4p.

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.

Authors: Weinstein, DA Jackson, RJ Brennan, EA et al.

Source: Orphanet Journal of Rare Diseases. 8/30/2024, Vol. 19 Issue 1, p1-1. 1p.

Author Index.

Source: European Journal of Clinical Investigation. Apr2016 Supplement, Vol. 46, p127-134. 8p.

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III.

Authors: Lanfranconi, F. Peli, L. Pollastri, L. et al.

Source: Physiological Reports. Feb2026, Vol. 14 Issue 4, p1-19. 19p.

Prenatal Phenotype in a Neonate with Prader–Willi Syndrome and Literature Review.

Authors: Luo, Libing Tang, Mary Hoi Yin Lin, Shengmou et al.

Source: Diagnostics (2075-4418). Jul2025, Vol. 15 Issue 13, p1666. 11p.

Optimizing Inpatient Phototherapy in Adult Crigler-Najjar Syndrome Type 1: A Practical Framework for Acute Hyperbilirubinemia Management.

Authors: Vattoth, Ahamed Lazim Narayanan, Praveena

Source: ACG Case Reports Journal. Jun2026, Vol. 13 Issue 6, p1-4. 5p.

Structures of the neutral amino acid transporter LAT4 provide insights into antitumor effects of its inhibitor tubeimoside-1.

Authors: Ding D Lu Y Yang J et al.

Source: The EMBO journal [EMBO J] 2026 Jun; Vol. 45 (12), pp. 4283-4298. Date of Electronic Publication: 2026 May 04.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

This result is not displayed to guests.
Login for full access.

Characteristics of metabolic myopathies among Egyptian patients.

Authors: Elgamal, Mennat-Allah M. Rashed, Hebatallah Nada, Maha et al.

Source: Egyptian Journal of Neurology, Psychiatry & Neurosurgery. 8/25/2025, Vol. 61 Issue 1, p1-12. 12p.

Tracing the molecular landscape of diabetic nephropathy: Insights from machine learning and experiment verification.

Authors: Kattan, Shahad W. Basri, Ahmed M. Alhashmi, Mohammad H. et al.

Source: Journal of Diabetes Investigation. Aug2025, Vol. 16 Issue 8, p1473-1486. 14p.

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Authors: Kalkan Uçar, Sema Elek, Alperen Yazıcı, Havva et al.

Source: European Journal of Clinical Nutrition. Aug2025, Vol. 79 Issue 8, p723-730. 8p.

Clinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.

Authors: Xu, Yiwen Liu, Yan Yuan, Yuheng et al.

Source: European Journal of Pediatrics. Jul2025, Vol. 184 Issue 7, p1-9. 9p.

Clinical and molecular study of Egyptian pediatric patients with Crigler-Najjar syndrome.

Authors: Khedr, Mohammed A. Behairy, Behairy E. Basiouny, Hosam El Din M. et al.

Source: Egyptian Liver Journal. 6/20/2025, Vol. 15 Issue 1, p1-10. 10p.

Hospital dental care for patients with Niemann-Pick syndrome type B: a case report.

Authors: da Fonseca Orcina, Bernardo Reia, Verônica Caroline Brito Zangrando, Denis et al.

Source: Journal of Rare Diseases. 10/10/2024, Vol. 3 Issue 1, p1-4. 4p.