Search Results - "Gaucher's disease"

Rare disease patients in India are rarely involved in international orphan drug trials by Monoswi Chakraborty, Mohua Chakraborty Choudhury, Indraneel Chakraborty, Gayatri Saberwal

Connect to this object online.

Rare disease patients in India are rarely involved in international orphan drug trials. by Monoswi Chakraborty, Mohua Chakraborty Choudhury, Indraneel Chakraborty, Gayatri Saberwal

Connect to this object online.

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais by Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk

Connect to this object online.

Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes by Rafael Franco, Rafael Franco, Juan A. Sánchez-Arias, Gemma Navarro, Gemma Navarro, Gemma Navarro, José L. Lanciego, José L. Lanciego, José L. Lanciego

Connect to this object online.

Carbohydrates 2018 by Rauter, Amélia Pilar

DOAB: download the publication
DOAB: description of the publication

Evaluation of bone marrow in patients with pancytopenia by R Pathak, A Jha, G Sayami

Connect to this object online.

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry by Ruotong Li, Liping Tian, Qing Gao, Yuanfang Guo, Gaijie Li, Yulin Li, Meng Sun, Yan Yan, Qing Li, Wenying Nie, Hui Zou

Connect to this object online.

Iminosugars: Effects of Stereochemistry, Ring Size, and <i>N</i>-Substituents on Glucosidase Activities by Luís O. B. Zamoner, Valquiria Aragão-Leoneti, Ivone Carvalho

Connect to this object online.

Selected Lectures of the 12th International Workshop on Neonatology; Cagliari (Italy); October 19-22, 2016 by -

Connect to this object online.