المؤلفون: Welling, Lindsey^Aff13, Waisbren, Susan E.^Aff14, Antshel, Kevin M.^Aff15, Colhoun, Hugh-Owen^Aff16, Gautschi, Matthias^Aff17, Grünewald, Stephanie^Aff18, Holman, Rebecca^Aff19, van der Lee, Johanna H.^Aff20, Treacy, Eileen P.^Aff21, Bosch, Annet M.^Aff13

المساهمون: Baumgartner, Matthias, Series editor^{Aff1, Aff8}, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 37. 37:115-123

المؤلفون: Maratha, Ashwini^{Aff13, Aff15}, Colhoun, Hugh-Owen^Aff14, Knerr, Ina^Aff13, Coss, Karen P.^Aff17, Doran, Peter^Aff15, Treacy, Eileen P.^{Aff13, Aff15, Aff16, Aff18}

المساهمون: Baumgartner, Matthias R., Series editor^Aff1, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}, Baumgartner, Matthias, editor^Aff8

المصدر: JIMD Reports, Volume 34. 34:33-42

المؤلفون: Colhoun, Hugh-Owen^Aff1, Rubio Gozalbo, Estela M.^Aff2, Bosch, Annet M.^Aff3, Knerr, Ina^Aff4, Dawson, Charlotte^Aff5, Brady, Jennifer^Aff6, Galligan, Marie^Aff7, Stepien, Karolina^Aff8, O’Flaherty, Roisin^Aff9, Catherine Moss, C.^Aff10, Peter Barker, P.^Aff11, Fitzgibbon, Maria^Aff6, Doran, Peter P.^Aff7, Treacy, Eileen P.^{Aff1, Aff4, Aff12}

المصدر: Orphanet Journal of Rare Diseases. 13(1)

المؤلفون: Treacy, Eileen P., Vencken, Sebastian, Bosch, Annet M., Gautschi, Matthias, Rubio‐Gozalbo, Estela, Dawson, Charlotte, Nerney, Darragh, Colhoun, Hugh Owen, Shakerdi, Loai, Pastores, Gregory M., O'Flaherty, Roisin, Saldova, Radka

المصدر: Journal of Inherited Metabolic Disease Reports; Sep2021, Vol. 61 Issue 1, p76-88, 13p

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المؤلفون: Treacy EP; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland.; Department of Paediatrics Trinity College Dublin Dublin Ireland.; UCD School of Medicine University College Dublin Dublin Ireland., Vencken S; Department of Medicine Trinity College Dublin Dublin Ireland., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Gautschi M; Department of Paediatrics and Institute of Clinical Chemistry Inselspital, University Hospital Bern Bern Switzerland., Rubio-Gozalbo E; Department of Pediatrics/Laboratory of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands., Dawson C; Department of Endocrinology University Hospitals Birmingham NHS Foundation Trust Birmingham UK., Nerney D; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland., Colhoun HO; NIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training Dublin Ireland., Shakerdi L; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland., Pastores GM; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin Ireland., O'Flaherty R; NIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training Dublin Ireland.; Department of Chemistry Maynooth University Kildare Ireland., Saldova R; NIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training Dublin Ireland.; UCD School of Medicine, College of Health and Agricultural Sciences (CHAS), University College Dublin (UCD) Dublin Ireland.

المصدر: JIMD reports [JIMD Rep] 2021 Jul 22; Vol. 61 (1), pp. 76-88. Date of Electronic Publication: 2021 Jul 22 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE