Results 21 to 30 of about 2,938 (199)

Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations. [PDF]

Eur J Neurol
In patients who continued ERT during pregnancy, it appeared to be safe, with no documented adverse effects for mother or child. While most patients experienced a mild worsening of clinical condition during pregnancy, the majority recovered well postpartum.
Theunissen MTM, Hayat Z, Bouhour F, van den Hout JMP, Noury JB, Lagrange E, Jouy A, Taouagh N, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.   +11 more
europepmc   +2 more sources

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P, other members of the expert group consortium.   +25 more
europepmc   +2 more sources

Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Luce L, Kocak GS, Verdú-Díaz J, Alonso-Pérez J, Claeys KG, Stojkovic T, Fernández-Eulate G, Laforêt P, Miladi N, Di Pace F, Moreno CAM, Zanoteli E, Weihl CC, Straub V, Töpf A, Díaz-Manera J, Sarcoglycan European Cohort Consortium.   +16 more
europepmc   +2 more sources

La ilusión de lo referencial en la novela de la memoria

apropos [Perspektiven auf die Romania], 2022
La novela Mala gente que camina de Benjamín Prado narra la historia de un profesor de instituto que descubre por casualidad la existencia de una autora desconocida, Dolores Serma, mientras redacta una conferencia sobre Carmen Laforet.
Maribel Cedeño Rojas
doaj   +1 more source

La amistad femenina en la vida de Carmen Laforet [PDF]

, 2018
Màster en Estudis de la Diferència Sexual, Universitat de Barcelona. DUODA, Pràctica d'escriptura de la diferència sexual. Centre de recerca de dones, curs: 2017-2018, Tutora: Caroline WilsonLa amistad femenina fue la principal fuente de libertad en la ...
Molina Albuixech, Lorena
core   +4 more sources

Le paysage linguistique de Port-au-Prince : le cas de la route de Frères

Revue Internationale des Francophonies, 2023
Pour tout étranger visitant Haïti pour la première fois, le constat sur le paysage linguistique est inévitable : le français est la langue majoritairement utilisée dans l’espace public urbain. Par exemple, les panneaux indicateurs, les enseignes
Johnny Laforêt
doaj   +1 more source

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study. [PDF]

Eur J Neurol
ABSTRACT Background and Objectives Mortality in Late‐Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in‐depth approach to the exact causes of death in these patients is still lacking.
Chitimus DM, Tard C, Fournier M, Bouhour F, Béhin A, Salort-Campana E, Lagrange E, Kaminsky AL, Magot A, Beltran S, Noury JB, Magy L, Solé G, Renard D, Spinazzi M, Demurger F, Cintas P, Nadaj-Pakleza A, Deibener-Kaminsky J, Bassez G, Taouagh N, Arrassi A, Lefeuvre C, Attarian S, Hamroun D, Laforêt P, for French Pompe study group.   +26 more
europepmc   +2 more sources

Otro paso ‘fuera del tiempo’: Al volver la esquina de Carmen Laforet

Revista de Literatura, 2007
Se estudia aquí la novela Al volver la esquina, de Carmen Laforet, publicada de manera póstuma por la editorial Destino en 2004, el mismo año de la muerte de la escritora.
Elisabetta Noè
doaj   +1 more source

La production culturelle pour la jeunesse au prisme du dépôt légal

Strenae, 2020
Every year, the Bibliothèque nationale de France publishes its Observatoire du dépôt légal, a publication that sheds light on the publishing world and its trends in terms of the documents and resources received under legal deposit.
Alice Laforêt
doaj   +1 more source

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR). [PDF]

Eur J Neurol
Between 2017 and 2022, 13.5% of the 42,256 FILNEMUS patients (n = 5696) still lacked a confirmed diagnosis. Socio‐economic status and postcode are off the hook, but crossing the 50‐year mark sharply lengthens the gap between first symptoms and expert evaluation.
Dumas R, Jannot AS, Elarouci N, Salort-Campana E, Pisella L, Tard C, Sacconi S, Bouhour F, Sarrazin E, Spinazzi M, Laforet P, Pereon Y, Nadaj-Pakleza A, Echaniz-Laguna A, Choumert A, Magy L, Feasson L, Esselin F, Cances C, Espile C, Desguerre I, Rouzier C, Cintas P, Stojkovic T, Solé G, Attarian S, FILNEMUS Study Group.   +26 more
europepmc   +2 more sources