المؤلفون: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Classic galactosemia, Inherited metabolic disorder, Galactose metabolism, Arginine, Amino acid supplementation, Chemical chaperones, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0954-8Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/14f787f239734944a06747ee7ac1581cTest

المؤلفون: Stefan Kölker, Ernst Christensen, Dorothea Möslinger, Raphael J. Morscher, Elisabetta Pasquini, Céline Bürer, Patricie Burda, Brian Fowler, Terttu Suormala, Martin Stucki, Matthias R. Baumgartner, Bridget Wilcken, René Santer, Sarah C. Grünert, J. Herwig, Can Ficicioglu, Wyatt W. Yue, K Otfried Schwab

المساهمون: University of Zurich, Baumgartner, Matthias R

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 31 (2012)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases

مصطلحات موضوعية: Male, Newborn screening, lcsh:Medicine, medicine.disease_cause, Polymerase Chain Reaction, 0302 clinical medicine, 3-Methylcrotonyl-CoA carboxylase, Surveys and Questionnaires, Genotype, 2736 Pharmacology (medical), MCCC1, Genetics(clinical), Pharmacology (medical), MCCC2, Child, Urea Cycle Disorders, Inborn, Genetics (clinical), Medicine(all), 0303 health sciences, Mutation, food and beverages, General Medicine, 3-Methylcrotonyl-CoA carboxylase deficiency, Penetrance, Phenotype, 3. Good health, Carbon-Carbon Ligases, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, 2716 Genetics (clinical), Biotin, 610 Medicine & health, Biology, Asymptomatic, Cell Line, 03 medical and health sciences, Internal medicine, medicine, Humans, Allele, 030304 developmental biology, Inborn error, Research, lcsh:R, Infant, medicine.disease, Endocrinology, 10036 Medical Clinic, Immunology, Organic aciduria, 030217 neurology & neurosurgery

وصف الملف: 1750-1172-7-31.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d3a9fe9ed047397f7672bcb52354809Test
http://www.ojrd.com/content/7/1/31Test