Biochemical Genetics

Listings: 1-20   21-40   41-52
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High‐Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3) in Urine Collected on Filter Paper
Christiane Auray‐Blais, Pamela Lavoie, Michel Boutin, Mona Abaoui
Published online: April 2017
Methods for Quantitative Creatinine Determination
John F. Moore, J. Daniel Sharer
Published online: April 2017
A General Non‐Radioactive ATPase Assay for Chromatin Remodeling Complexes
Benjamin Z. Stanton, Courtney Hodges, Gerald R. Crabtree, Keji Zhao
Published online: March 2017
High‐Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non‐Methylated Gb3 Isoforms Using Tandem Mass Spectrometry
Mona Abaoui, Michel Boutin, Pamela Lavoie, Christiane Auray‐Blais
Published online: October 2016
Acylglycine Analysis by Ultra‐Performance Liquid Chromatography‐Tandem Mass Spectrometry (UPLC‐MS/MS)
Judith A. Hobert, Aiping Liu, Marzia Pasquali
Published online: October 2016
Fabry Disease Biomarkers: Analysis of Urinary Lyso‐Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry
Pamela Lavoie, Michel Boutin, Mona Abaoui, Christiane Auray‐Blais
Published online: July 2016
Tandem Mass Spectrometry Quantitation of Lyso‐Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients
Michel Boutin, Pamela Lavoie, Mona Abaoui, Christiane Auray‐Blais
Published online: July 2016
An Overview of Biochemical Genetics
J. Daniel Sharer
Published online: April 2016
Quantitative Analysis of Total Plasma Homocysteine by LC‐MS/MS
Libin Yuan, J. Daniel Sharer
Published online: April 2016
Glycosylation Analysis for Congenital Disorders of Glycosylation
Xueli Li, Mohd A. Raihan, Francis Jeshira Reynoso, Miao He
Published online: July 2015
Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias
Vaithamanithi‐Mudumbai Sadagopa Ramanujam, Karl Elmo Anderson
Published online: July 2015
Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type I
Britt A. Johnson, Angela Dajnoki, Olaf A. Bodamer
Published online: January 2015
Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses
Patricia Hall, Sara Minnich, Claire Teigen, Kimiyo Raymond
Published online: October 2014
Diagnosis of Lysosomal Storage Disorders: Gaucher Disease
Britt A. Johnson, Angela Dajnoki, Olaf Bodamer
Published online: July 2014
Isolation of Single‐Stranded DNA
Yuji Wakimoto, Jianming Jiang, Hiroko Wakimoto
Published online: July 2014
Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II
Britt A. Johnson, Otto P. van Diggelen, Angela Dajnoki, Olaf A. Bodamer
Published online: October 2013
Diagnosing Lysosomal Storage Disorders: Fabry Disease
Olaf A. Bodamer, Britt Johnson, Angela Dajnoki
Published online: April 2013
DNA Isolation from Mammalian Samples
Ximeng Liu, Shuko Harada
Published online: April 2013
Listings: 1-20   21-40   41-52