GAA c.1225G>C ;(p.D409H)

Variant ID: 17-78082526-G-C

NM_000152.3(GAA):c.1225G>C;(p.D409H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.

International Journal Of Molecular Sciences
Conte, Federica F; Sam, Juda-El JE; Lefeber, Dirk J DJ; Passier, Robert R
Publication Date: 2023-05-11

Variant appearance in text: GAA: D409H
PubMed Link: 37239976
Variant Present in the following documents:
  • ijms-24-08632.pdf
View BVdb publication page



Cardiometabolism as an Interlocking Puzzle between the Healthy and Diseased Heart: New Frontiers in Therapeutic Applications.

Journal Of Clinical Medicine
Pasqua, Teresa T; Rocca, Carmine C; Giglio, Anita A; Angelone, Tommaso T
Publication Date: 2021-02-12

Variant appearance in text: GAA: D409H
PubMed Link: 33673114
Variant Present in the following documents:
  • jcm-10-00721.pdf
View BVdb publication page



Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Parenti, Giancarlo G; Andria, Generoso G; Valenzano, Kenneth J KJ
Publication Date: 2015-07

Variant appearance in text: GAA: D409H
PubMed Link: 25881001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.

Metabolic Brain Disease
Jakóbkiewicz-Banecka, Joanna J; Gabig-Cimińska, Magdalena M; Banecka-Majkutewicz, Zyta Z; Banecki, Bogdan B; Węgrzyn, Alicja A; Węgrzyn, Grzegorz G
Publication Date: 2014-03

Variant appearance in text: GAA: D409H
PubMed Link: 24307179
Variant Present in the following documents:
  • 11011_2013_Article_9455.pdf
View BVdb publication page



An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS
Publication Date: 2013-03

Variant appearance in text: GAA: D409H
PubMed Link: 22975760
Variant Present in the following documents:
  • gim2012114x1.pdf
View BVdb publication page



Lysosomal storage disorders in the newborn.

Pediatrics
Staretz-Chacham, Orna O; Lang, Tess C TC; LaMarca, Mary E ME; Krasnewich, Donna D; Sidransky, Ellen E
Publication Date: 2009-04

Variant appearance in text: GAA: D409H
PubMed Link: 19336380
Variant Present in the following documents:
  • Main text
View BVdb publication page