Sylvia S. Bottomley

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Duane L. Guernsey, Haiyan Jiang, Dean R. Campagna et al. · Nature Genetics · 2009 · 243 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Pranesh Chakraborty, Klaus Schmitz‐Abe, Erin K. Kennedy et al. · Blood · 2014 · 176 citations · Full text

Pathophysiology of heme synthesis.

Sylvia S. Bottomley, Ursula Müller‐Eberhard · PubMed · 1988 · 146 citations

Biochemistry, Physiology, Heme Synthesis +4

Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations

Anke K. Bergmann, Dean R. Campagna, Erin M. McLoughlin et al. · Pediatric Blood & Cancer · 2009 · 140 citations · Full text

CNS demyelination associated with copper deficiency and hyperzincemia

Călin I. Prodan, Neil R. Holland, P.J. Wisdom et al. · Neurology · 2002 · 130 citations

Neurological Disorder, Medicine, Clinical Neurology +9