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1.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Hum Mutat
; 40(7): 938-951, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31067009
2.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Mol Genet Metab
; 123(3): 364-374, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29396028
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