المصدر: Journal of Inherited Metabolic Disease. 40(4):609-620

مصطلحات موضوعية: ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, INTELLECTUAL DISABILITY, INBORN-ERRORS, GLUTAMINE-SYNTHETASE, RECESSIVE CUTIS LAXA, NEU-LAXOVA SYNDROME, MUTATIONS CAUSE, ASPARAGINE SYNTHETASE DEFICIENCY, SERINE BIOSYNTHESIS PATHWAY

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___01423::340aadf31af8bce6f25b7446a3f79eb4
https://research.rug.nl/en/publications/68fb3d5b-2510-472d-a409-ea2585555416

المؤلفون: de Koning, T. J.

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Central Nervous System, 0301 basic medicine, Microcephaly, INTELLECTUAL DISABILITY, INBORN-ERRORS, Glutamine, Serine, Mice, 0302 clinical medicine, Asparagine, RECESSIVE CUTIS LAXA, Amino Acids, Genetics (clinical), Amino acid synthesis, SERINE BIOSYNTHESIS PATHWAY, chemistry.chemical_classification, Brain Diseases, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, Fetal Growth Retardation, Ichthyosis, High-Throughput Nucleotide Sequencing, NEU-LAXOVA SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, Amino acid, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, Biochemistry, MUTATIONS CAUSE, Proline, Limb Deformities, Congenital, Biology, Ssiem 2016, 03 medical and health sciences, Metabolic Diseases, GLUTAMINE-SYNTHETASE, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Amino Acid Metabolism, Inborn Errors, medicine.disease, 030104 developmental biology, chemistry, 030217 neurology & neurosurgery, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cdf2d588a74f6aafb1c0cb685b7af5
https://doi.org/10.1007/s10545-017-0063-1

المؤلفون: Eniko K. Pivnick, Uwe Kornak, Asim F. Choudhri, Leila Pajunen, Camilo E. Villarroel, Paulina Bahena, Stephen P. Robertson, Abigail Loh, Graham D. Wright, Bert Callewaert, Stefan Mundlos, Sara L. Reichert, Irene Stolte-Dijkstra, Nathalie Escande-Beillard, David Meierhofer, Tomasz Zemojtel, Conny M. A. van Ravenswaaij-Arts, Roya Mostafavi, Peter N. Robinson, Mohammed Al Bughaili, Peter H. Byers, Bruno Reversade, Angela E. Lin, Amira Masri, Elisa Rahikkala, Ulrike Schwarze, Inderneel Sahai, Ulrike Krüger, Björn Fischer-Zirnsak, Jaya Ganesh, Jaron Liu, Sofie Symoens, Yu Xuan Tan, Lihadh Al-Gazali

المساهمون: Center for Reproductive Medicine, Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: The American Journal of Human Genetics
American journal of human genetics, 97(3), 483-492. Cell Press
American Journal of Human Genetics, 97(3), 483-492. CELL PRESS

مصطلحات موضوعية: BARSY-SYNDROME, Mutant, cutis laxa, PHENOTYPE, DISEASE, Corneal Opacity, De Barsy syndrome, proline metabolism, Genetics(clinical), Peptide sequence, Genetics (clinical), Genes, Dominant, Skin, Genetics, chemistry.chemical_classification, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, ALDH18A1, Ornithine-Oxo-Acid Transaminase, ARTERIAL-TORTUOSITY-SYNDROME, Phenotype, Pedigree, Amino acid, mitochondria, OSTEODYSPLASTICA, Proline, Molecular Sequence Data, Mutation, Missense, Biology, Species Specificity, Report, Intellectual Disability, medicine, Humans, TROPOELASTIN, Amino Acid Sequence, progeroid syndrome, Gene, Base Sequence, P5CS, Sequence Analysis, DNA, pyrroline-5-carboxylate synthase, medicine.disease, GENE, PYCR1, PYCR1 MUTATIONS, chemistry, Sequence Alignment, Wrinkly skin syndrome, Cutis laxa

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f459c4b4dd1f937061c16ab5898272d
https://doi.org/10.1016/j.ajhg.2015.08.001

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