المؤلفون: Abdella, Khairy^{Aff1, IDs43054023001876_cor1}

المصدر: Egyptian Pediatric Association Gazette. 71(1)

المؤلفون: Khairy Abdella

المصدر: Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Propionic acidaemia, Neurometabolic disorders, Propionyl-CoA carboxylase deficiency, DWI, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-9942

URL الوصول: https://doaj.org/article/c6687206f95b4a2fad4f80a2941fcf52

المؤلفون: Stefan Schumann, Frank Risto Rommel, Serdar Cantez, Evdokia Alexanidou, Clemens Kamrath, Jan de Laffolie

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: postpyloric nutrition, J-PEG, prevention of emergencies, methylmalonic acidaemia, MMA, propionic acidaemia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1078425/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/7c7e28127c6f4d75b1bb7f8d343fec3d

المؤلفون: Daly, Anne^Aff7, Evans, S.^Aff7, Gerrard, A.^Aff7, Santra, S.^Aff7, Vijay, S.^Aff7, MacDonald, A.^Aff7

المساهمون: Morava, Eva, editor^Aff1, Baumgartner, Matthias, editor^Aff2, Patterson, Marc, editor^Aff3, Rahman, Shamima, editor^Aff4, Zschocke, Johannes, editor^Aff5, Peters, Verena, editor^Aff6

المصدر: JIMD Reports, Volume 28. 28:29-39

المؤلفون: Schumann, Stefan, Rommel, Frank Risto, Cantez, Serdar, Alexanidou, Evdokia, Kamrath, Clemens, de Laffolie, Jan, Justus Liebig University Giessen

مصطلحات موضوعية: postpyloric nutrition, J-PEG, ddc:610, metabolic decompensation, prevention of emergencies, MMA, methylmalonic acidaemia, propionic acidaemia, PA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0a6c16ea5151e3ff4bc8f96b4183377f

المؤلفون: El-Naggari, Mohamed A., Rady, Marwa, Althihli, Khalid

المصدر: Sultan Qaboos University Medical Journal

مصطلحات موضوعية: Oman, Propionic Acidaemia, nutritional and metabolic diseases, Infant, Case Report, Insulin Resistance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::829f0aa3cb2d00b505d899ba37ff7ee6
http://europepmc.org/articles/PMC8631204

المؤلفون: Martín-Hernández, E^{Aff1, Aff4}, Quijada-Fraile, P^Aff1, Oliveros-Leal, L^Aff1, García-Silva, MT^Aff1, Pérez-Cerdá, C^Aff2, Baro-Fernández, M^Aff3, Pérez-Alonso, V^Aff3, Vivanco, JL^Aff3

المساهمون: SSIEM

المصدر: JIMD Reports - Case and Research Reports, 2012/3. 6:73-78

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المؤلفون: Tomas Honzik, Diana Ballhausen, Martina Huemer, Kimberly A. Chapman, Matthias R. Baumgartner, Carlo Dionisi-Vici, Stephanie Grunewald, Sarah C. Grünert, Sabine Scholl-Bürgi, Anupam Chakrapani, Daniela Karall, Monique Williams, Jörn Oliver Sass, Patrick Forny, Goknur Haliloglu, Femke Molema, Marjorie Dixon, Galit Tal, Friederike Hörster, Michel Hochuli, Diego Martinelli

المساهمون: Pediatrics

المصدر: Journal of Inherited Metabolic Disease, 44(3), 566-592. Springer Netherlands
Journal of Inherited Metabolic Disease
Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A; Dionisi-Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver; Scholl-Bürgi, Sabine; Tal, Galit; Williams, Monique; Huemer, Martina; ... (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), pp. 566-592. Wiley 10.1002/jimd.12370 <http://dx.doi.org/10.1002/jimd.12370>
J Inherit MetabDis. 2021;44:566–592

مصطلحات موضوعية: medicine.medical_specialty, 610 Medicine & health, Context (language use), Free amino, diagnosis and management, 03 medical and health sciences, Health care, Genetics, Medicine, Guideline development, ddc:610, guidelines, Methylmalonic acidaemia, inherited metabolic disease, Intensive care medicine, Genetics (clinical), First revision, 030304 developmental biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Original Articles, methylmalonic acidaemia, 3. Good health, Original Article, business, propionic acidaemia, Propionic acidaemia, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b100eb452f8373fdf2592b78e83c3d
https://pure.eur.nl/en/publications/92b20fb2-2f66-48af-b853-afabe47afb0f