نتائج البحث - "Bélanger-Quintana, A."

1

Academic Journal

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe:The Impact of Age and Phenylketonuria Severity

المصدر: Pinto , A , Ahring , K , Almeida , M F , Ashmore , C , Bélanger-Quintana , A , Burlina , A , Coşkun , T , Daly , A , van Dam , E , Dursun , A , Evans , S , Feillet , F , Giżewska , M , Gökmen-Özel , H , Hickson , M , Hoekstra , Y , Ilgaz , F , Jackson , R , Leśniak , A , Loro , C , Malicka , K , Patalan , M , Rocha , J C , Sivri , S , ....

مصطلحات موضوعية: natural protein intake, phenylalanine intake, phenylketonuria, protein equivalent from protein substitute intake, total protein intake

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/7f3ecf75-2d3e-4bf2-8670-aace1f5afe67
https://research.rug.nl/en/publications/7f3ecf75-2d3e-4bf2-8670-aace1f5afe67
https://doi.org/10.3390/nu16172909
https://pure.rug.nl/ws/files/1163553880/nutrients-16-02909.pdf
http://www.scopus.com/inward/record.url?scp=85204105610&partnerID=8YFLogxK

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2

Academic Journal

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

المؤلفون: Kaiyrzhanov, Rauan, Thompson, Kyle, Efthymiou, Stephanie, Mukushev, Askhat, Zharylkassyn, Akbota, Prasad, Chitra, Ghayoor Karimiani, Ehsan, Alvi, Javeria Raza, Niyazov, Dmitriy, Alahmad, Ahmad, Babaei, Meisam, Tajsharghi, Homa, Albash, Buthaina, Alaqeel, Ahmad, Charif, Majida, Hashemi, Narges, Heidari, Morteza, Kalantar, Seyed Mehdi, Lenaers, Guy, Vahidi Mehrjardi, Mohammad Yahya, Srinivasan, Varunvenkat M, Gowda, Vykuntaraju K, Mirabutalebi, Seyed Hamidreza, Carere, Deanna Alexis, Movahedinia, Mojtaba, Murphy, David, McFarland, Robert, Abdel-Hamid, Mohamed S, Elhossini, Rasha M, Alavi, Shahryar, Napier, Melanie, Belanger-Quintana, Amaya, Prasad, Asuri N, Jakobczyk, Jessica, Roubertie, Agathe, Rupar, Tony, Sultan, Tipu, Toosi, Mehran Beiraghi, Sazanov, Leonid, Severino, Mariasavina, Houlden, Henry, Taylor, Robert W, Maroofian, Reza

المساهمون: Medical Research Council, Wellcome Trust, Global Parkinson’s Genetics Program, Aligning Science Across Parkinson's, The Michael J. Fox Foundation, The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Multiple System Atrophy Trust, Brain Research UK, Sparks Great Ormond Street Hospital Charity, Muscular Dystrophy, Muscular Dystrophy Association, King Baudouin Foundation, European Union’s Seventh Framework Programme, Science and Technology Development Fund, Wellcome Centre for Mitochondrial Research, Mitochondrial Disease Patient Cohort, Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease, Lily Foundation, Mito Foundation, Pathological Society, LifeArc, UK National Institute for Health Research Biomedical Research Centre for Ageing and Age-related disease award, Global Parkinson’s Genetic Program

المصدر: Brain Communications ; volume 7, issue 1 ; ISSN 2632-1297

الاتاحة: https://doi.org/10.1093/braincomms/fcae453
https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae453/61218229/fcae453.pdf
https://academic.oup.com/braincomms/article-pdf/7/1/fcae453/61218229/fcae453.pdf

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3

Academic Journal

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

الاتاحة: https://doi.org/10.3390/nu16132064
https://avesis.hacettepe.edu.tr/publication/details/0b836f4e-ffb2-4ac3-88c9-95403e695d75/oai

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4

Academic Journal

Women with Gaucher Disease

المؤلفون: Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, Jesús Villarrubia-Espinosa

المصدر: Biomedicines, Vol 12, Iss 3, p 579 (2024)

مصطلحات موضوعية: Gaucher disease, women, enzyme-replacement therapy (ERT), substrate-reduction therapy (SRT), lysosomal-storage disorder, Biology (General), QH301-705.5

Relation: https://www.mdpi.com/2227-9059/12/3/579; https://doaj.org/toc/2227-9059; https://doaj.org/article/c0b14991a0d948f48d6d5020a2c89ed5

الاتاحة: https://doi.org/10.3390/biomedicines12030579
https://doaj.org/article/c0b14991a0d948f48d6d5020a2c89ed5

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5

Academic Journal

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

المؤلفون: Stanescu, Sinziana, Correcher, Patricia, del Castillo, Francisco J., Alonso Luengo, Olga, Arto Millan, Luis Maria, Bélanger-Quintana, Amaya, Camprodon Gomez, Maria

المساهمون: Institut Català de la Salut, Stanescu S Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), Madrid, Spain. Correcher Medina P Pediatric Nutrition and Metabolic Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain. Del Castillo FJ Genetics Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Alonso Luengo O Pedriatic Unit, Hospital Universitario Virgen del Rocío, Seville, Spain. Arto Millan LM Internal Medicine Unit, Complejo Asistencial Universitario de León, León, Spain. Belanger Quintana A Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Camprodon Gomez M Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Malalties rares, Gaucher, Malaltia de - Tractament, Malaltia de - Aspectes genètics, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Gaucher Disease, Other subheadings::Other subheadings::Other subheadings::/genetics, HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Gaucher, Otros calificadores::Otros calificadores::Otros calificadores::/genética, ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades

وصف الملف: application/pdf

Relation: Biomedicines;11(10); https://doi.org/10.3390/biomedicines11102861; Stanescu S, Correcher Medina P, del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, et al. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study. Biomedicines. 2023 Oct 22;11(10):2861.; https://hdl.handle.net/11351/10587

الاتاحة: https://hdl.handle.net/11351/10587
https://doi.org/10.3390/biomedicines11102861

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6

Periodical

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

المؤلفون: Muntau, Ania C, Longo, Nicola, Ezgu, Fatih, Schwartz, Ida Vanessa D, Lah, Melissa, Bratkovic, Drago, Margvelashvili, Lali, Kiykim, Ertugrul, Zori, Roberto, Campistol Plana, Jaume, Bélanger-Quintana, Amaya, Lund, Allan, Guilder, Laura, Chakrapani, Anupam, Mungan, Halise Neslihan, Guimas, Arlindo, Cabrales Guerra, Ixiu del Carmen, MacDonald, Anita, Ingalls, Kimberly, Smith, Neil, Muntau, Ania C, Longo, Nicola, Ezgu, Fatih, Schwartz, Ida Vanessa D, Lah, Melissa, Bratkovic, Drago, Margvelashvili, Lali, Kiykim, Ertugrul, Zori, Roberto, Campistol Plana, Jaume, Bélanger-Quintana, Amaya, Lund, Allan, Guilder, Laura, Chakrapani, Anupam, Mungan, Halise Neslihan, Guimas, Arlindo, Cabrales Guerra, Ixiu del Carmen, MacDonald, Anita, Ingalls, Kimberly, Sacharow, Stephanie, Minami, Maria Avanise Yumi, Rutsch, Frank, Tchan, Michel, Peters, Heidi, Khan, Aneal, Vijay, Suresh, Opladen, Thomas, Northrup, Hope, Oliveira, Anabela, Feillet, François, Agladze, Dodo, Hughes, Catalina, Larkin, Alexandra, Milner, Sarah, Gao, Lan, Greenbaum, Rochelle, Zhao, Zhenming, Smith, Neil

المصدر: The Lancet; October 2024, Vol. 404 Issue: 10460 p1333-1345, 13p

7

Academic Journal

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

المؤلفون: Stanescu, Sinziana, Bravo Alonso, Irene, Belanger Quintana, Amaya, Pérez González, María Belén, Medina‑Diaz, Montserrat, Ruiz-Sala, Pedro, Flores, Nathaly Paola, Buenache, Raquel, Arrieta Blanco, Francisco-Jesús, Rodríguez Pombo, Pilar

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: 3 Hydroxybutyric Acid, Genomic DNA, Monocarboxylate Transporter 1, Valine, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-022-02389-4; Gobierno de España. PI19/01155; Comunidad de Madrid. B2017/BMD-3721/RAREGENOMICS-CM; Orphanet Journal of Rare Diseases 17.1 (2022): 243; 1750-1172 (online); http://hdl.handle.net/10486/707158; 243-1; 243-11; 17

الاتاحة: http://hdl.handle.net/10486/707158
https://doi.org/10.1186/s13023-022-02389-4

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8

Academic Journal

Correction: Vitamin C and folate status in hereditary fructose intolerance

المصدر: European Journal of Clinical Nutrition ; volume 77, issue 11, page 1102-1103 ; ISSN 0954-3007 1476-5640

الاتاحة: https://doi.org/10.1038/s41430-023-01334-3
https://www.nature.com/articles/s41430-023-01334-3.pdf
https://www.nature.com/articles/s41430-023-01334-3

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9

Conference

267 Review of prehospital pain management in pediatric trauma

المؤلفون: Montero, SI, Villamor, CL, Lara, JA, Corral, E, Miguel, F, Bélanger-Quintana, D

المصدر: Abstracts ; page A7.3-A8

الاتاحة: http://dx.doi.org/10.1136/bmjopen-2022-ems.17
https://syndication.highwire.org/content/doi/10.1136/bmjopen-2022-EMS.17

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10

Academic Journal

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.

المصدر: Nutrients; Sep2024, Vol. 16 Issue 17, p2909, 22p

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11

Correction to

PKU dietary handbook to accompany PKU guidelines

المؤلفون: MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F, van Spronsen, F J

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

وصف الملف: application/pdf

Relation: 1750-1172; PURE: 20224806

الاتاحة: http://hdl.handle.net/10362/105898

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12

Academic Journal

PKU dietary handbook to accompany PKU guidelines

المؤلفون: A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)

مصطلحات موضوعية: Phenylketonuria, PKU, Diet, Treatment, Recommendations, Guidelines, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01391-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6db0b3aff39244089967cfaf8292367c

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13

Academic Journal

267 Review of prehospital pain management in pediatric trauma

المؤلفون: E Corral, SI Montero, CL Villamor, JA Lara, F Miguel, D Bélanger-Quintana

المصدر: BMJ Open, Vol 12, Iss Suppl 1 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/3d83493fba294aafbbf6d3442a29d102

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14

Conference

Blood phenylalanine control in patients with phenylketonuria in Europe: is it a changing landscape?

المؤلفون: MacDonald, A., van Spronsen, F., Rodenburg, I., Rocha, J. C., Loro, C., Lesniak, A., ILGAZ, FATMA, Hoekstra, Y., GÖKMEN ÖZEL, HÜLYA, Gizewska, M., Feillet, F., van Dam, E., Daly, A., Burlina, A., Belanger-Quintana, A., Almeida, M. F., Ahring, K., Pinto, A.

الاتاحة: https://doi.org/10.1016/j.ymgme.2024.108394
https://avesis.hacettepe.edu.tr/publication/details/8ee93905-35e7-4569-8379-0dc573ac0e5b/oai

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15

Academic Journal

Vitamin C and folate status in hereditary fructose intolerance

وصف الملف: application/pdf

Relation: https://www.nature.com/articles/s41430-022-01178-3; European Journal of Clinical Nutrition 76(12) : 1733-1739 (2022); http://hdl.handle.net/10810/59838

الاتاحة: http://hdl.handle.net/10810/59838
https://doi.org/10.1038/s41430-022-01178-3

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16

Academic Journal

Management of early treated adolescents and young adults with phenylketonuria ; Development of international consensus recommendations using a modified Delphi approach

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS)

مصطلحات موضوعية: Adolescent, Consensus recommendations, Modified Delphi, Phenylketonuria, PKU, Young adult, Endocrinology, Diabetes and Metabolism, Biochemistry, Molecular Biology, Genetics, SDG 3 - Good Health and Well-being

Relation: PURE: 46237696; PURE UUID: bc48a910-7928-42ca-80ef-fd249c62e9c9; Scopus: 85136251748; WOS: 000861056300002; http://hdl.handle.net/10362/143582; https://doi.org/10.1016/j.ymgme.2022.07.012

الاتاحة: http://hdl.handle.net/10362/143582
https://doi.org/10.1016/j.ymgme.2022.07.012

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