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Prospective phenotyping of NGLY1-CDDG, the first congenital..:
Lam, Christina
;
Ferreira, Carlos
;
Krasnewich, Donna
...
qt3cf4782r. , 2017
Link:
https://escholarship.org/uc/item/3cf4782r
RT Journal T1
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt3cf4782r&Exemplar=1&LAN=DE A1 Lam, Christina A1 Ferreira, Carlos A1 Krasnewich, Donna A1 Toro, Camilo A1 Latham, Lea A1 Zein, Wadih M A1 Lehky, Tanya A1 Brewer, Carmen A1 Baker, Eva H A1 Thurm, Audrey A1 Farmer, Cristan A A1 Rosenzweig, Sergio D A1 Lyons, Jonathan J A1 Schreiber, John M A1 Gropman, Andrea A1 Lingala, Shilpa A1 Ghany, Marc G A1 Solomon, Beth A1 Macnamara, Ellen A1 Davids, Mariska A1 Stratakis, Constantine A A1 Kimonis, Virginia A1 Gahl, William A A1 Wolfe, Lynne PB eScholarship, University of California YR 2017 K1 Biological Sciences K1 Genetics K1 Neurosciences K1 Eye Disease and Disorders of Vision K1 Clinical Research K1 Clinical Trials and Supportive Activities K1 Adolescent K1 Adult K1 Albumins K1 Cerebrospinal Fluid Proteins K1 Child K1 Preschool K1 Developmental Disabilities K1 Female K1 Glycoproteins K1 Glycosylation K1 Humans K1 Male K1 Mutation K1 Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase K1 Phenotype K1 Young Adult K1 deglycosylation K1 natural history K1 NGLY1 K1 NGLY1-CDDG K1 Clinical Sciences K1 Genetics & Heredity JF qt3cf4782r LK http://dx.doi.org/https://escholarship.org/uc/item/3cf4782r DO https://escholarship.org/uc/item/3cf4782r SF ELIB - SuUB Bremen
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