المؤلفون: Jessica I. Gold, Arianna K. Stefanatos, Jamie L. Fraser, Adeline Vanderver, Sanmati Cuddapah

المصدر: JIMD Reports, Vol 65, Iss 3, Pp 156-162 (2024)

مصطلحات موضوعية: IDH2 inhibitor, novel treatment, organic acidurias, Type II D2‐hydroxyglutaric aciduria, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/eb00fb1250a14ded99b8d3782e23cec9

المؤلفون: Olga V. Bugun, Galina P. Bogonosova, Tatyana A. Astakhova, Tatyana A. Bairova, Natalya N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Yuliya S. Livadarova, Nanalya I. Sysoeva

المصدر: Вопросы современной педиатрии, Vol 23, Iss 2, Pp 96-103 (2024)

مصطلحات موضوعية: methylmalonic aciduria, organic acidurias, hereditary metabolic diseases, clinical case, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/3453; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

URL الوصول: https://doaj.org/article/1d308db1c8e041368ebb1b2c6d76fb2b

المؤلفون: Awatef Jelassi, Fahmi Nasrallah, Emna Talbi, Mohamed Bassem Hammami, Rihab Ghodbane, Haifa Sanhaji, Moncef Feki, Naziha Kaabachi, Sameh Hadj-Taieb

المصدر: Saudi Journal of Medicine and Medical Sciences, Vol 12, Iss 1, Pp 27-34 (2024)

مصطلحات موضوعية: incidence, inborn errors metabolism, inherited errors of amino acid metabolism, epidemiology, diagnosis, organic acidurias, tunisia, Medicine

وصف الملف: electronic resource

Relation: https://journals.lww.com/sjmm/fulltext/2024/12010/spectrum_of_organic_aciduria_diseases_in_tunisia_.4.aspx; https://doaj.org/toc/1658-631X; https://doaj.org/toc/2321-4856

URL الوصول: https://doaj.org/article/e45b7e156cec42b184a3e546a168adc5

المؤلفون: O. V. Bugun, N. N. Martynovich, G. P. Bogonosova, T. A. Astahova, L. V. Rychkova

المصدر: Acta Biomedica Scientifica, Vol 6, Iss 5, Pp 112-125 (2021)

مصطلحات موضوعية: inherited metabolic diseases, inborn errors of metabolism, tandem mass spectrometry, aminoacidopathies, organic acidurias, mitochondrial β-oxidation defects, Science

وصف الملف: electronic resource

Relation: https://www.actabiomedica.ru/jour/article/view/3041; https://doaj.org/toc/2541-9420; https://doaj.org/toc/2587-9596

URL الوصول: https://doaj.org/article/7f8dc3e877894ec69a8a235eebdfbd93

المؤلفون: Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 12-20 (2021)

مصطلحات موضوعية: dystonia, glutaric aciduria type 1, low excretor, organic acidurias, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/c69c947dda504ec285b0e7d24fe948cc

المؤلفون: Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100876- (2022)

مصطلحات موضوعية: Health-related quality of life, Caregiver burden, Disease severity, Inborn errors of metabolism, Organic acidurias, Urea cycle disorders, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000362; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/006043b424c24b719832e2d1bc930b12

المؤلفون: de Koning, T. J.

المصدر: de Koning , T J 2024 , White matter abnormalities in amino acid disorders and organic acidurias . in Handbook of Clinical Neurology . Handbook of Clinical Neurology , vol. 204 , Elsevier Bedrijfsinformatie b.v. , pp. 173-196 . https://doi.org/10.1016/B978-0-323-99209-1.00023-5

مصطلحات موضوعية: Amino acids disorders, Hypomyelination, Leukoencephalopathies, Organic acidurias, White matter abnormalities

الاتاحة: https://hdl.handle.net/11370/5dd7c6fe-3222-4068-b4c4-72a885f327c7
https://research.rug.nl/en/publications/5dd7c6fe-3222-4068-b4c4-72a885f327c7
https://doi.org/10.1016/B978-0-323-99209-1.00023-5
http://www.scopus.com/inward/record.url?scp=85204482693&partnerID=8YFLogxK

المؤلفون: Bösch, Florin, Zeltner, Nina A, Baumgartner, Matthias R, Huemer, Martina, Landolt, Markus A

المصدر: Bösch, Florin; Zeltner, Nina A; Baumgartner, Matthias R; Huemer, Martina; Landolt, Markus A (2022). Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus. Orphanet Journal of Rare Diseases, 17(1):26.

مصطلحات موضوعية: Medical Clinic, Institute of Psychology, 150 Psychology, Patient-reported outcomes, PROs, Patient-reported outcome measures, PROMs, Inborn errors of metabolism, Rare metabolic diseases, Organic acidurias, Urea cycle disorders, Maple syrup urine disease, Phenylketonuria

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/214606/1/Bosch_et_al,_2022.pdf; info:pmid/35093149; urn:issn:1750-1172

الاتاحة: https://www.zora.uzh.ch/id/eprint/214606/
https://www.zora.uzh.ch/id/eprint/214606/1/Bosch_et_al,_2022.pdf

المؤلفون: Florin Bösch (12018913), Nina A. Zeltner (12018916), Matthias R. Baumgartner (2608309), Martina Huemer (12018919), Markus A. Landolt (8057528)

مصطلحات موضوعية: Medicine, Pharmacology, Cancer, Science Policy, Patient-reported outcomes, PROs, Patient-reported outcome measures, PROMs, Inborn errors of metabolism, Rare metabolic diseases, Organic acidurias, Urea cycle disorders, Maple syrup urine disease, Phenylketonuria

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Key_patient-reported_outcomes_in_children_and_adolescents_with_intoxication-type_inborn_errors_of_metabolism_an_international_Delphi-based_consensus/19092343

الاتاحة: https://doi.org/10.6084/m9.figshare.19092343.v1

المؤلفون: Florin Bösch (12018913), Nina A. Zeltner (12018916), Matthias R. Baumgartner (2608309), Martina Huemer (12018919), Markus A. Landolt (8057528)

مصطلحات موضوعية: Medicine, Pharmacology, Cancer, Science Policy, Patient-reported outcomes, PROs, Patient-reported outcome measures, PROMs, Inborn errors of metabolism, Rare metabolic diseases, Organic acidurias, Urea cycle disorders, Maple syrup urine disease, Phenylketonuria

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Key_patient-reported_outcomes_in_children_and_adolescents_with_intoxication-type_inborn_errors_of_metabolism_an_international_Delphi-based_consensus/19092346

الاتاحة: https://doi.org/10.6084/m9.figshare.19092346.v1

المؤلفون: Florin Bösch (12018913), Nina A. Zeltner (12018916), Matthias R. Baumgartner (2608309), Martina Huemer (12018919), Markus A. Landolt (8057528)

مصطلحات موضوعية: Medicine, Pharmacology, Cancer, Science Policy, Patient-reported outcomes, PROs, Patient-reported outcome measures, PROMs, Inborn errors of metabolism, Rare metabolic diseases, Organic acidurias, Urea cycle disorders, Maple syrup urine disease, Phenylketonuria

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Key_patient-reported_outcomes_in_children_and_adolescents_with_intoxication-type_inborn_errors_of_metabolism_an_international_Delphi-based_consensus/19092349

الاتاحة: https://doi.org/10.6084/m9.figshare.19092349.v1

المؤلفون: Florin Bösch (12018913), Nina A. Zeltner (12018916), Matthias R. Baumgartner (2608309), Martina Huemer (12018919), Markus A. Landolt (8057528)

مصطلحات موضوعية: Medicine, Pharmacology, Cancer, Science Policy, Patient-reported outcomes, PROs, Patient-reported outcome measures, PROMs, Inborn errors of metabolism, Rare metabolic diseases, Organic acidurias, Urea cycle disorders, Maple syrup urine disease, Phenylketonuria

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_Key_patient-reported_outcomes_in_children_and_adolescents_with_intoxication-type_inborn_errors_of_metabolism_an_international_Delphi-based_consensus/19092352

الاتاحة: https://doi.org/10.6084/m9.figshare.19092352.v1

المؤلفون: Ertugrul Kiykim, Ozge Oguz, Cisem Duman, Tanyel Zubarioglu, Mehmet Serif Cansever, Ayse Cigdem Aktuglu Zeybek

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100715- (2021)

مصطلحات موضوعية: Hyperammonemia, Methylmalonic acidemia, N-Carbamylglutamate, Organic acidurias, Propionic acidemia, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000094; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/72b178e8a17447feb49364cb13920588

المؤلفون: Wajner, Moacir, Sitta, Angela, Kayser, Aline, Deon, Marion, Groehs, Ana C., Coelho, Daniella M., Vargas, Carmen R.

المصدر: Genetics and Molecular Biology. January 2019 42(1)

مصطلحات موضوعية: Organic acidurias, aminoacidopathies, inborn errors of metabolism, selective screening

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200178

المؤلفون: Molema, F., Haijes, H.A., Janssen, M.C., Bosch, A.M., van Spronsen, F.J., Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J.M., van der Ploeg, A.T., Wagenmakers, M.A., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., de Vries, M.C., Fuchs, S., Langendonk, J.G., Rizopoulos, D., van Hasselt, P.M., Williams, M.

المصدر: Molema , F , Haijes , H A , Janssen , M C , Bosch , A M , van Spronsen , F J , Mulder , M F , Verhoeven-Duif , N M , Jans , J J M , van der Ploeg , A T , Wagenmakers , M A , Rubio-Gozalbo , M E , Brouwers , M C G J , de Vries , M C , Fuchs , S , Langendonk , J G , Rizopoulos , D , van Hasselt , P M & Williams , M 2021 , ' High protein prescription ....

مصطلحات موضوعية: Propionic acidemia, Methylmalonic acidemia, Dietary treatment, Outcome, Complications, Protein restriction, HEAD CIRCUMFERENCE, DIETARY PRACTICES, MANAGEMENT, GROWTH, ACIDURIAS, MUTATIONS, CENTILES, WEIGHT

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/e03a8ce7-32c7-43de-a930-e07c7144c947
https://doi.org/10.1016/j.clnu.2020.12.027

المؤلفون: Andrea Bordugo, Elisa Salvetti, Giulia Rodella, Michele Piazza, Alice Dianin, Angela Amoruso, Giorgio Piacentini, Marco Pane, Sandra Torriani, Nicola Vitulo, Giovanna E. Felis

المصدر: Microorganisms; Volume 9; Issue 12; Pages: 2599

مصطلحات موضوعية: propionic acidemia, propionic acid, metronidazole, inherited metabolic diseases, metabarcoding, metagenomics, organic acidurias, diet, genetic, electronic nose, VOC, gut microbiota, Bacteroides fragilis, probiotic supplementation, bifidobacteria, Bifidobacterium breve, Ruminococcus gnavus

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Gut Microbiota; https://dx.doi.org/10.3390/microorganisms9122599

الاتاحة: https://doi.org/10.3390/microorganisms9122599

المؤلفون: Dvořáková, Veronika

المساهمون: Honzík, Tomáš, Danhofer, Pavlína, Bzduch, Vladimír, Magner, Martin

مصطلحات موضوعية: rare diseases, mitochondrial diseases, MELAS syndrome, TMEM70 deficiency, hyperammonemia, organic acidurias, urea cycle disorders, vzácná onemocnění, mitochondriální onemocnění, MELAS syndrom, TMEM70 deficit, hyperamonémie, organické acidurie, poruchy cyklu močoviny

وصف الملف: application/pdf; application/zip

Relation: http://hdl.handle.net/20.500.11956/195793; 273228

الاتاحة: https://hdl.handle.net/20.500.11956/195793

المؤلفون: Pazzi, Marco, Colella, Sara, Alladio, Eugenio, Puccinelli, M. Paola, Mengozzi, Giulio, Medana, Claudio

المساهمون: Pazzi, Marco, Colella, Sara, Alladio, Eugenio, Puccinelli, M. Paola, Mengozzi, Giulio, Medana, Claudio

مصطلحات موضوعية: acylglycine, urine, doe, GC-MS, inborn errors of metabolism, organic acidurias

Relation: volume:1; issue:1; firstpage:14; lastpage:23; numberofpages:10; journal:ANALYTICA; http://hdl.handle.net/2318/1779764; https://www.mdpi.com/2673-4532/1/1/3

الاتاحة: http://hdl.handle.net/2318/1779764
https://doi.org/10.3390/analytica1010003
https://www.mdpi.com/2673-4532/1/1/3

المؤلفون: Haijes, H.A., Molema, F., Langeveld, M., Janssen, M.C., Bosch, A.M., van Spronsen, F., Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J.M., van der Ploeg, A.T., Wagenmakers, M.A., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., de Vries, M.C., Langendonk, J.G., Williams, M., van Hasselt, P.M.

المصدر: Haijes , H A , Molema , F , Langeveld , M , Janssen , M C , Bosch , A M , van Spronsen , F , Mulder , M F , Verhoeven-Duif , N M , Jans , J J M , van der Ploeg , A T , Wagenmakers , M A , Rubio-Gozalbo , M E , Brouwers , M C G J , de Vries , M C , Langendonk , J G , Williams , M & van Hasselt , P M 2020 , ' Retrospective evaluation of the Dutch pre-newborn screening cohort ....

مصطلحات موضوعية: age, methylmalonic acidemia, mma, nbs, newborn screening, onset, organic acidurias, pa, phenotypic spectrum, propionic acidemia

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/0db38af0-4801-4bb7-a52d-faf8b50d79c4
https://doi.org/10.1002/jimd.12193

المؤلفون: Pinto, Alex, Evans, Sharon, Daly, Anne, Almeida, Manuela Ferreira, Assoun, Murielle, Belanger-Quintana, Amaya, Bernabei, Silvia Maria, Bollhalder, Sandra, Cassiman, David, Champion, Helena, Chan, Heidi, Corthouts, Karen, Dalmau, Jaime, de Boer, Foekje, De Laet, Corinne, de Meyer, An, Desloovere, An, Dianin, Alice, Dixon, Marjorie, Dokoupil, Katharina, Dubois, Sandrine, Eyskens, Francois, Faria, Ana, Fasan, Ilaria, Favre, Elisabeth, Feillet, Francois, Fekete, Anna, Gallo, Giorgia, Gingell, Cerys, Gribben, Joanna, Hansen, Kit Kaalund, Ter Horst, Nienke, Jankowski, Camille, Janssen-Regelink, Renske, Jones, Ilana, Jouault, Catherine, Kahrs, Gudrun Elise, Kok, Irene, Kowalik, Agnieszka, Laguerre, Catherine, Le Verge, Sandrine, Liguori, Alessandra, Lilje, Rina, Maddalon, Cornelia, Mayr, Doris, Meyer, Uta, Micciche, Avril, Och, Ulrike, Robert, Martine, van Dam, Esther

المصدر: Pinto , A , Evans , S , Daly , A , Almeida , M F , Assoun , M , Belanger-Quintana , A , Bernabei , S M , Bollhalder , S , Cassiman , D , Champion , H , Chan , H , Corthouts , K , Dalmau , J , de Boer , F , De Laet , C , de Meyer , A , Desloovere , A , Dianin , A , Dixon , M , Dokoupil , K , Dubois , S , Eyskens , F , Faria , A , Fasan , ....

مصطلحات موضوعية: methylmalonic acidaemia, natural protein, precursor-free amino acids, protein-restricted diet, PROPIONIC ACIDEMIA, ORGANIC ACIDEMIAS, MANAGEMENT, ACIDURIAS, GROWTH

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/52fc53e3-e9d0-42e0-bfb1-0ed11ab94dce
https://research.rug.nl/en/publications/52fc53e3-e9d0-42e0-bfb1-0ed11ab94dce
https://doi.org/10.1515/jpem-2019-0277
https://pure.rug.nl/ws/files/194442484/Dietary_practices_in_methylmalonic_acidaemia_a_European_survey.pdf