Compound heterozygotes and beta-thalassemia: Top-down mass spectrometry for detection of hemoglobinopathies

Top-Down Proteomics and Direct Surface Sampling of Neonatal Dried Blood Spots: Diagnosis of Unknown Hemoglobin Variants

(2012) Rebecca L. Edwards et al.   JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY

Hemoglobin Variant Analysis via Direct Surface Sampling of Dried Blood Spots Coupled with High-Resolution Mass Spectrometry

(2011) Rebecca L. Edwards et al.   ANALYTICAL CHEMISTRY

3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry

(2011) François Boemer et al.   CLINICA CHIMICA ACTA

Significant haemoglobinopathies: guidelines for screening and diagnosis

(2010) Kate Ryan et al.   BRITISH JOURNAL OF HAEMATOLOGY

Positive screening and carrier results for the England-wide universal newborn sickle cell screening programme by ethnicity and area for 2005-07

(2010) A. Streetly et al.   JOURNAL OF CLINICAL PATHOLOGY

Sickle-cell disease

(2010) David C Rees et al.   LANCET

Beta-thalassemia

(2010) Renzo Galanello et al.   Orphanet Journal of Rare Diseases

Hot electron capture dissociation distinguishes leucine from isoleucine in a novel hemoglobin variant, Hb Askew, β54(D5)Val→Ile

(2009) Jonathan P. Williams et al.   JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY

Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant haemoglobinopathies in England: screening results for 2005-7

(2008) A Streetly et al.   JOURNAL OF CLINICAL PATHOLOGY