Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias

(2018) Roberta Russo et al.   AMERICAN JOURNAL OF HEMATOLOGY

Acute neonatal bilirubin encephalopathy in the State of Utah 2009–2018

(2018) Robert D. Christensen et al.   BLOOD CELLS MOLECULES AND DISEASES

Hemolysis and Glucose-6-Phosphate Dehydrogenase Deficiency-Related Neonatal Hyperbilirubinemia

(2018) Michael Kaplan et al.   Neonatology

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients

(2018) Andolfo Immacolata et al.   AMERICAN JOURNAL OF HEMATOLOGY

Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan

(2018) Pei-Chin Lin et al.   CLINICA CHIMICA ACTA

Developmental influence of unconjugated hyperbilirubinemia and neurobehavioral disorders

(2018) Sanjiv B. Amin et al.   PEDIATRIC RESEARCH

Red blood cell PK deficiency: An update of PK-LR gene mutation database

(2016) Giulia Canu et al.   BLOOD CELLS MOLECULES AND DISEASES

Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias

(2016) Archana M. Agarwal et al.   BRITISH JOURNAL OF HAEMATOLOGY

Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases

(2016) Manu Jamwal et al.   CLINICA CHIMICA ACTA

New insights on hereditary erythrocyte membrane defects

(2016) Immacolata Andolfo et al.   HAEMATOLOGICA

Glucose-6-Phosphate Dehydrogenase Deficiency

(2016) Lucio Luzzatto et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

New insights on hereditary erythrocyte membrane defects

(2016) Immacolata Andolfo et al.   HAEMATOLOGICA

Erythrocyte pyruvate kinase deficiency: 2015 status report

(2015) Rachael F. Grace et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis

(2015) E. Glogowska et al.   BLOOD

Disorders of erythrocyte volume homeostasis

(2015) E. Glogowska et al.   International Journal of Laboratory Hematology

Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis

(2014) P. Koralkova et al.   International Journal of Laboratory Hematology

Causes of hemolysis in neonates with extreme hyperbilirubinemia

(2014) R D Christensen et al.   Journal of Perinatology

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

(2013) I. Andolfo et al.   BLOOD

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

(2013) Lydie Da Costa et al.   BLOOD REVIEWS

A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency

(2013) H M Yaish et al.   Journal of Perinatology

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

(2013) Juliette Albuisson et al.   Nature Communications

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations

(2012) Angelo Minucci et al.   BLOOD CELLS MOLECULES AND DISEASES

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

(2012) Evita van de Steeg et al.   JOURNAL OF CLINICAL INVESTIGATION

Assessment of UGT Polymorphisms and Neonatal Jaundice

(2011) Mark G. Bartlett et al.   SEMINARS IN PERINATOLOGY

Peroxiredoxin 2 and Peroxide Metabolism in the Erythrocyte

(2008) Felicia M. Low et al.   ANTIOXIDANTS & REDOX SIGNALING

Hereditary spherocytosis

(2008) Silverio Perrotta et al.   LANCET