Follow-up protocol of patients with cystic fibrosis diagnosed by newborn screening

Autor: Silvia Gartner, Pedro Mondéjar-López, Óscar Asensio de la Cruz, María José Alonso, Marina Álvarez, Anselmo Andrés Martín, María Isabel Barrio Gómez de Agüero, María Jesús Cabero Pérez, Pilar Caro Aguilera, María Cols Roig, Isidoro Cortell Aznar-Pérez, Jordi Costa Colomer, Isabel Delgado Pecellín, Amparo Escribano Montaner, Joan Figuerola Mulet, Gloria García Hernández, Pilar Guayarte, David Gil Ortega, David Gómez Pastrana, Adelaida Lamas Ferreiro, José Luis Marín Soria, Carlos Martín de Vicente, Martín Navarro Merino, Concepción Oliva Hernández, Javier Pérez Frías, Estela Pérez Ruiz, Sandra Rovira Amigo, Antonio Salcedo Posadas, Manuel Sánchez-Solís, Josep Sirvent Gómez, Carlos Vázquez Cordero, José Ramón Villa Asensi

Publikováno v: Anales de Pediatría (English Edition), Vol 90, Iss 4, Pp 251.e1-251.e10 (2019)

Newborn screening (NBS) for cystic fibrosis (CF) is well-established in many countries and provides the opportunity for an early diagnosis and treatment before the development of irreversible structural lung damage.In 1999, Catalonia, Castilla-León,

Externí odkaz: https://doaj.org/article/8dd249170a644c38af89ff7e0f733184

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Autor: Austin Larson, Carolyn Ellaway, Michel Tchan, Jerry Vockley, Eva Morava, Francjan J. van Spronsen, Francesca Moore, David Gil-Ortega, Saskia B. Wortmann, Matthias Gautschi, Sabine Scholl-Bürgi, Peter Witters, Emmalie A. Jager, François-Guillaume Debray, A. Çiğdem Aktuğlu Zeybek, Johan L.K. Van Hove, Kaustuv Bhattacharya, Kimihiko Oishi, Willemijn J. van Rijt, Derk P. Allersma, Michael T. Geraghty, Andrew A. M. Morris, Terry G J Derks, Manuel Schiff

Publikováno v: Genetics in Medicine
Genet. Med. 22, 908–916 (2020)
Genetics in Medicine, 22(5), 908-916. Nature Publishing Group
van Rijt, Willemijn J; Jager, Emmalie A; Allersma, Derk P; Aktuğlu Zeybek, A Çiğdem; Bhattacharya, Kaustuv; Debray, François-Guillaume; Ellaway, Carolyn J; Gautschi, Matthias; Geraghty, Michael T; Gil-Ortega, David; Larson, Austin A; Moore, Francesca; Morava, Eva; Morris, Andrew A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Bürgi, Sabine; Tchan, Michel C; Vockley, Jerry; Witters, Peter; ... (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in medicine, 22(5), pp. 908-916. Springer Nature 10.1038/s41436-019-0739-z

Vockley, Jerry/0000-0002-8180-6457; Zeybek, Ayse Cigdem Aktuglu/0000-0001-7256-0750; Vockley, Jerry/0000-0002-8180-6457; Oishi, Kimihiko/0000-0001-9446-8912; Derks, Terry/0000-0002-7259-1095 WOS:000507768800001 PubMed ID: 31904027 Purpose Multiple ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24cc107ce349d5db667f89a7979605f2
http://europepmc.org/articles/PMC7200590

A real-world study focused on the effectiveness and safety of adalimumab as first-line anti-TNF treatment for paediatric Crohn's disease

Autor: Javier Martín-de-Carpi, Gemma Pujol-Muncunill, Vicente Varea-Calderón, David Gil-Ortega, Carlos Sierra Salinas, María Navalón Rubio, Enrique Llerena, Víctor Manuel Navas-López

Publikováno v: Anales de Pediatría (English Edition), Vol 88, Iss 2, Pp 89-99 (2018)

Background and objectives: Adalimumab (ADA), a monoclonal humanised anti-TNF antibody, is usually prescribed as a second-line treatment in paediatric Crohn's disease (CD) patients who have become unresponsive or developed intolerance to infliximab (I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc16f7d87fd07f31449bb753de29d7b
http://www.sciencedirect.com/science/article/pii/S2341287917300637

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Autor: Luc Régal, Erik-Jan Kamsteeg, Damien Lederer, Nicol C. Voermans, Alberto Burlina, John W.M. Creemers, David Gil Ortega, Sandra Meulemans, Tord Jonson, Mia Olsson Engman, A. Jeannette M. Hoogeboom, Meyke Schouten, Emma Mårtensson, María Jesús Juan Fita, Tess Hollemans, Isabelle Maystadt, Inge Francois

Publikováno v: Genetics in Medicine, 20, 109-118
Genetics in Medicine, 20(1), 109-118. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 1, pp. 109-118

PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6df0fb957e800350e8fd92c40c67e5f
https://pubmed.ncbi.nlm.nih.gov/28726805

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Autor: Angeles Garcia-Cazorla, Anupam Chakrapani, Francesco Papadia, Maria Bueno Delgado, Celine Plisson, David Gil-Ortega, Vassili Valayannopoulos, Patricia Rosello, Julien Baruteau, Jeannie Le Mouhaer, Samia Pichard, Nathalie Guffon, Aline Cano, Pedro Gomez-de Quero, Mireia del Toro, Floris C. Hofstede, Sema kalkan-Ucar, Agustin Molina, Mahmut Çoker, María L. Couce, Mercedes Martinez-Pardo Casanova, Maria Alice Donati, Rosa A Lama-More

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 11. BioMed Central

WOS: 000373180700001
PubMed ID: 27030250
Background: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee11699aa0554aba813c8b0edc0b88bb
https://doi.org/10.1186/s13023-016-0406-2