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BBA - Molecular Basis of Disease, ISSN 0925-4439, 2009, Volume 1792, Issue 9, pp. 827 - 834
Journal Article
Human Mutation, ISSN 1059-7794, 11/2000, Volume 16, Issue 5, pp. 386 - 394
Journal Article
PRENATAL DIAGNOSIS, ISSN 0197-3851, 10/2006, Volume 26, Issue 10, pp. 985 - 988
Blood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum... 
fetal death in utero | congenital disorder of glycosylation | oedema | DEFICIENT GLYCOPROTEIN SYNDROME | cordocentesis | GENETICS & HEREDITY | GALACTOSYLATION | non-immune hydrops fetalis | CDG-Ia | prenatal diagnosis | serum transferrin isoforms | OBSTETRICS & GYNECOLOGY
Journal Article
Journal Article
MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 12/2019, Volume 128, Issue 4, pp. 409 - 414
ALG12-congenital disorder of glycosylation (ALG12-CDG) is a rare disorder caused by a deficiency of... 
MEDICINE, RESEARCH & EXPERIMENTAL | ALG12-CDG | CDG | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ALG12 | CONGENITAL DISORDER | Congenital disorder of glycosylation | MUTATIONS | SPECTRUM | IA CDG-IA | DEFICIENCY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 5, pp. 1181 - 1188
Purpose: PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is... 
PMM2-CDG | CDG severity scale | coagulation | long-term follow-up | liver function test | GLYCOSYLATION TYPE-IA | GENETICS & HEREDITY | CONGENITAL DISORDERS | SPECTRUM | CDG-IA | long-term followup | FIBROBLASTS
Journal Article
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1422-0067, 09/2019, Volume 20, Issue 17, p. 4164
A large number of mutations causing PMM2-CDG, which is the most frequent disorder of glycosylation, destabilize phosphomannomutase2. We looked for a... 
PMM2-CDG | BIOCHEMISTRY & MOLECULAR BIOLOGY | CONGENITAL DISORDER | CDG-IA | CHEMISTRY, MULTIDISCIPLINARY | glucose-1 | PHOSPHOMANNOMUTASE 2 DEFICIENCY | pharmacological chaperone | 6-bisphosphate | MUTATIONS | INHIBITORS | DERIVATIVES | EXPRESSION | glucose-1,6-bisphosphate
Journal Article