المؤلفون: Wagemans, T, de Ru, MH, van der Tol, L, IJlst, L, Wanders, RJA, van Vlies, N, Wijburg, FA

المصدر: Tijdschrift voor Kindergeneeskunde. February 2013 81(1):116-116

المؤلفون: Kingma, SDK, Wagemans, T, IJlst, L, Langereis, EJ, Wanders, RJA, Wijburg, FA, van Vlies, N

المصدر: Tijdschrift voor Kindergeneeskunde. February 2013 81(1):65-65

المؤلفون: Heringer, J, Valayannopoulos, V, Lund, AM, Wijburg, FA, Freisinger, P, Baric, I, Baumgartner, MR, Burgard, P, Burlina, AB, Chapman, K A, Saladelafont, ECI, Karall, D, Muhlhausen, C, Riches, V, Schiff, M, Sykut-Cegielska, J, Walter, JH, Zeman, J, Williams, Monique, Chabrol, B, Kolker, S

المساهمون: Pediatrics, Paediatric Metabolic Diseases, Reproduction and Genetics, Neurogenetics, Clinical sciences

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease, 39(3), 341-353. Springer Netherlands
Journal of inherited metabolic disease, 39(3), 341-353. Springer Netherlands
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Methylmalonic acid, Late onset, Glutaric aciduria type 1, 030105 genetics & heredity, Asymptomatic, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Neonatal Screening, Metabolic Diseases, Intellectual Disability, Genetics, Journal Article, Medicine, Humans, Young adult, Age of Onset, Child, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Newborn screening, Glutaryl-CoA Dehydrogenase, business.industry, Brain Diseases, Metabolic, Infant, Newborn, Brain Diseases, Metabolic, Inborn, Infant, food and beverages, Odds ratio, Middle Aged, medicine.disease, Vitamin B 12, chemistry, Child, Preschool, Female, Amino Acid Transport Disorders, Inborn, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery, Methylmalonic Acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993b8d2ea39f103218eb17f6d3cca161
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13398

المؤلفون: Biegstraaten, Marieke, Arngrímsson, R, Barbey, F, Boks, L, Cecchi, Franco, Deegan, PB, Feldt-Rasmussen, Ulla, Geberhiwot, T, Germain, DP, Hendriksz, C, Hughes, DA, Kantola, I, Karabul, N, Lavery, C, Linthorst, GE, Mehta, A, van de Mheen, E, Oliveira, JP, Parini, R, Ramaswami, Uma, Rudnicki, M, Serra, A, Sommer, Claudia, Sunder-Plassmann, G, Svarstad, Einar, Sweeb, A, Terryn, W, Tylki-Szymanska, A, Tøndel, Camilla, Vujkovac, B, Weidemann, Frank, Wijburg, FA, Woolfson, P, Hollak, CE.

الإتاحة: https://hdl.handle.net/1956/10751

المؤلفون: Teunissen, Q, van Spronsen, FJ, Visser, G, Brands, Marion, van der Ploeg, Ans, Wijburg, FA

المساهمون: Pediatrics

المصدر: Tijdschrift voor Kindergeneeskunde, 78(2), 57-62. Bohn Stafleu van Loghum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::a33e4ea3795cbe4006fbbdf73c1c23a5
https://pure.eur.nl/en/publications/22bb09d4-9309-45dc-bf62-64262d36bd6e

المؤلفون: van der Ploeg, Ans, Wijburg, FA

المساهمون: Pediatrics

المصدر: Tijdschrift voor Kindergeneeskunde, 78(2), 46-49. Bohn Stafleu van Loghum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::b48dbfb7b6099aecdce230365ffe1d06
https://pure.eur.nl/en/publications/0ef01ce8-3cd4-460b-8276-25632e7d156f

المؤلفون: van Spronsen, FJ, Bijleveld, CMA, van Maldegem, TT, Wijburg, FA

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Pediatric Gastroenterology and Nutrition, 40(1), 90-93. Lippincott Williams and Wilkins

مصطلحات موضوعية: METABOLITE, RISK, ORTHOTOPIC LIVER-TRANSPLANTATION, NTBC, INHIBITOR, 2-(2-NITRO-4-TRIFLUOROMETHYLBENZOYL)-1,3-CYCLOHEXANEDIONE, FUMARYLACETOACETATE, CIRRHOSIS, 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::98eae026ac487e5e1b8d816875aa4215
https://research.rug.nl/en/publications/1d7be244-ce47-4a8e-9e85-245824c70c13

المؤلفون: VANSPRONSEN, FJ, SMIT, GPA, WIJBURG, FA, THOMASSE, Y, VISSER, G, HEYMANS, HSA

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Inherited Metabolic Disease, 18(2), 111-114. SPRINGER

مصطلحات موضوعية: HEREDITARY TYROSINEMIA, CHRONIC FORM, TYROSINEMIA TYPE-I, LIVER-TRANSPLANTATION

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::a91e770cc342f62a10b7d6bef105c4ac
https://research.rug.nl/en/publications/1408fffe-bd18-40c1-825f-507f4b0438e5

المؤلفون: OOSTRA, RJ, BOLHUIS, PA, WIJBURG, FA, ZORNENDE, G, BLEEKERWAGEMAKERS, EM

المصدر: JOURNAL OF MEDICAL GENETICS, 31(4), 280-286. BMJ PUBLISHING GROUP

مصطلحات موضوعية: NEURORETINOPATHY, DNA HETEROPLASMY, GENETIC-HETEROGENEITY, SEGREGATION, PEDIGREES, LINEAGE, MUTATION, DISEASE, POLYMORPHISM

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::de73df07545fae92884326039ab67433
https://research.rug.nl/en/publications/f6e5b736-19af-4599-845e-d86356f9df69

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