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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.
Int J Neonatal Screen. 2021 Sep 29;7(4):62. doi: 10.3390/ijns7040062.
Int J Neonatal Screen. 2021.
PMID: 34698070
Free PMC article.
[50 years of the Neonatal Screening Program in Catalonia.].
Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols Roig M, Costa Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol Plana J, García Cazorla Á, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch Iriberri R, García-Volpe C, de Los Santos MM, Sierra March C, Ruiz Hernández CJ, Meavilla Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B, Cabezas Peña C.
Marín Soria JL, et al. Among authors: arranz amo ja.
Rev Esp Salud Publica. 2020 Dec 16;94:e202012177.
Rev Esp Salud Publica. 2020.
PMID: 33323926
Free article.
Spanish.
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[D-lactic acidosis in an 11-year-old patient with short bowel syndrome].
Soler Palacín P, Garzón Lorenzo P, Castilla Fernández Y, Arranz Amo JA, Scheider S, Tormo Carnicé R, del Toro Riera M, Figueras Nadal C.
Soler Palacín P, et al. Among authors: arranz amo ja.
An Pediatr (Barc). 2006 Apr;64(4):385-7. doi: 10.1157/13086529.
An Pediatr (Barc). 2006.
PMID: 16606577
Free article.
Spanish.
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Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Carnicer-Cáceres C, Villena-Ortiz Y, Castillo-Ribelles L, Barquín-Del-Pino R, Camprodon-Gomez M, Felipe-Rucián A, Moreno-Martínez D, Lucas-Del-Pozo S, Hernández-Vara J, García-Serra A, Tigri-Santiña A, Moltó-Abad M, Agraz-Pamplona I, Rodriguez-Palomares JF, Limeres-Freire J, Macaya-Font M, Rodríguez-Sureda V, Miguel LD, Del-Toro-Riera M, Pintos-Morell G, Arranz-Amo JA.
Carnicer-Cáceres C, et al. Among authors: arranz amo ja.
Blood Cells Mol Dis. 2023 Jan;98:102704. doi: 10.1016/j.bcmd.2022.102704. Epub 2022 Oct 5.
Blood Cells Mol Dis. 2023.
PMID: 36265282
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Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.
Carnicer-Cáceres C, Arranz-Amo JA, Cea-Arestin C, Camprodon-Gomez M, Moreno-Martinez D, Lucas-Del-Pozo S, Moltó-Abad M, Tigri-Santiña A, Agraz-Pamplona I, Rodriguez-Palomares JF, Hernández-Vara J, Armengol-Bellapart M, Del-Toro-Riera M, Pintos-Morell G.
Carnicer-Cáceres C, et al. Among authors: arranz amo ja.
J Clin Med. 2021 Apr 13;10(8):1664. doi: 10.3390/jcm10081664.
J Clin Med. 2021.
PMID: 33924567
Free PMC article.
Review.
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[Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases].
Sabaté Rotés A, Del Toro Riera M, Albert Brotons DC, Arranz Amo JA, Carrascosa Lezcano A, Girona Comas J.
Sabaté Rotés A, et al. Among authors: arranz amo ja.
Med Clin (Barc). 2011 Nov 19;137(13):596-9. doi: 10.1016/j.medcli.2011.06.019. Epub 2011 Sep 28.
Med Clin (Barc). 2011.
PMID: 21955540
Spanish.
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[Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency].
Yeste Fernández D, Castelló Girona F, Mora Graupera J, Riudor Taravila E, Arranz Amo J, Ribes Rubió A, Pérez Cerdá C.
Yeste Fernández D, et al.
An Esp Pediatr. 1996 Jun;44(6):620-2.
An Esp Pediatr. 1996.
PMID: 8849116
Review.
Spanish.
No abstract available.
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Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology.
Navarro-Romero A, Fernandez-Gonzalez I, Riera J, Montpeyo M, Albert-Bayo M, Lopez-Royo T, Castillo-Sanchez P, Carnicer-Caceres C, Arranz-Amo JA, Castillo-Ribelles L, Pradas E, Casas J, Vila M, Martinez-Vicente M.
Navarro-Romero A, et al. Among authors: arranz amo ja.
NPJ Parkinsons Dis. 2022 Oct 6;8(1):126. doi: 10.1038/s41531-022-00397-6.
NPJ Parkinsons Dis. 2022.
PMID: 36202848
Free PMC article.
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