Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Techniques in diagnostic human biochemical genetics: A laboratory manual

R.C. Strange · FEBS Letters · 1992 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset<i>GLA</i>mutation c.936+919G&gt;A (IVS4+919G&gt;A)

Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ni‐Chung Lee et al. · Human Mutation · 2009 · 358 citations · Full text

Medicine, Genetics, Pediatrics +17

Prevalence of lysosomal storage diseases in Portugal

Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos et al. · European Journal of Human Genetics · 2003 · 349 citations

Life Sciences, Genetics, Pathology +11

Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era

Michael M. Kaback · JAMA · 1993 · 257 citations

Medicine, Genetics, Molecular Genetics +17