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1.
An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family.
Osteoporos Int
; 33(11): 2445-2448, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-35840698
2.
A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.
J Inherit Metab Dis
; 42(3): 407-413, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30671984
3.
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Genet Med
; 18(10): 1037-43, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26913919
4.
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Mol Genet Genomic Med
; 12(5): e2471, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38803233
5.
Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.
Front Endocrinol (Lausanne)
; 13: 965476, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36072928
6.
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Hum Mutat
; 30(5): 795-803, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19235233
7.
Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.
Biochem Biophys Res Commun
; 379(2): 267-71, 2009 Feb 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-19101518
8.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Eur J Hum Genet
; 27(4): 556-562, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30626930
9.
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
PLoS One
; 12(6): e0179456, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28662078
10.
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.
Clin Chem
; 54(1): 93-100, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18024528
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