Heng Wang MD PhD

PubMed

• 6 citations
  Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
  Antonia Felzen, Daan B E van Wessel, Emmanuel Gonzales, Richard J Thompson, Irena Jankowska
  JHEP Reports. 2023-02-01
• 10 citations
  Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
  Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel
  American Journal of Human Genetics. 2022-03-03
• 14 citations
  Health-Related Quality of Life and Fatigue in Children and Adults with Pyruvate Kinase Deficiency.
  Hanny Al-Samkari, Eduard J. van Beers, D. Holmes Morton, Stefan W. Eber, Satheesh Chonat
  Blood Advances. 2021-09-01

Abstracts/Posters

• Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency
  Heng Wang, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/7/2019
• Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency
  Heng Wang, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/7/2019
• Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency
  Heng Wang, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/9/2019

Lectures

• Mosaic DNMT3A Germline Mutation As a Model for Mutant DNMT3A Competitive Advantage in the Blood Lineage 
  2018 ASH Annual Meeting - San Diego, CA - 12/1/2018