Publications:

Dose of Isoniazid in Renal Disease for Treatment of Tuberculosis.

Annals Of Indian Academy Of Neurology

Sarma, G R K GRK

Publication Date: 2022

Variant appearance in text: HEXA: 109T>A; Y37N

PubMed Link: 35936603

Variant Present in the following documents:

• AIAN-25-502b.pdf

View BVdb publication page

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: HEXA: 109T>A; Tyr37Asn

PubMed Link: 33083013

Variant Present in the following documents:

• Main text
• 41525_2020_150_MOESM1_ESM.pdf

View BVdb publication page

Unusual case of Juvenile Tay-Sachs disease.

Bmj Case Reports

Cheema, Huma A HA; Waheed, Nadia N; Saeed, Anjum A

Publication Date: 2019-09-12

Variant appearance in text: HEXA: Tyr37Asn

PubMed Link: 31519716

Variant Present in the following documents:

• Main text

View BVdb publication page

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Molecular Genetics And Metabolism Reports

Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR

Publication Date: 2019-09

Variant appearance in text: HEXA: Tyr37Asn

PubMed Link: 31367523

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page