An Unusual Cause of Hexokinase 1 Deficiency-Case Report.
Gonench Kilich, Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Zhe Zhang, Helge Hartung, Kosuki Izumi, Kelly Hassey, Anna Raper, Erica Schindewolf and 6 more
Article in EJHaem, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1citing papers in PubMed
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1 · What the graph read from it
What it found
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2 · The registry
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5 · Who and what money
Authors and funding
16 authors.
Gonench KilichDivision of Allergy Immunology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Kelly MaurerDivision of Allergy Immunology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Tanaya JadhavDivision of Genomic Diagnostics Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Tejas JammihalDivision of Genomic Diagnostics Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Zhe ZhangDepartment of Computational Biology St. Jude Children's Research Hospital Memphis Tennessee USA.
Helge HartungClinic for Special Children Intercourse Pennsylvania USA.
Kosuki IzumiDepartment of Pediatrics Children's Medical Center Research Institute at UT Southwestern Dallas Texas USA.
Kelly HasseyDivision of Allergy Immunology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Anna RaperDivision of Translational Medicine and Human Genetics Perelman School of Medicine Philadelphia Pennsylvania USA.
Erica SchindewolfDivision of Allergy Immunology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Laura ConlinDivision of Genomic Diagnostics Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Rebecca GanetzkyDivision of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Marilyn LiDivision of Genomic Diagnostics Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Bertil GladerPediatric Hematology/Oncology, Department of Pathology Bass Cancer Center For Childhood Cancer and Blood Diseases Stanford, Palo Alto California USA.
Ramakrishnan RajagopalanDivision of Genomic Diagnostics Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Undiagnosed diseases network clinical siteU01HG010219 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI RADER, DANIEL JAMES, SULLIVAN, KATHLEEN E · 2018 to 2022
$3.0M
Utilizing long-read sequencing to resolve inconclusive diagnoses and uncertainty in genetic testingR01HG013355 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Ramakrishnan Rajagopalan · 2024 to 2026
$1.3M
UDN@CHOP/UPENN: transition to sustainabilityU01NS134352 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI RADER, DANIEL JAMES, SULLIVAN, KATHLEEN E · 2023 to 2023
Introduction: Molecular analysis of red cell disorders has revolutionized diagnosis, however, there remain challenges. Main Symptoms: This patient presented with hemolytic anemia in the newborn period. He required chronic transfusions to maintain his hemoglobin level until 6 years of age. A splenectomy was performed at 3 years of age. Main Diagnoses: Using whole genome sequencing, we were able to identify a duplication upstream of the red cell promoter of Conclusions: These non-coding variants remain challenging to identify. His promoter duplication may have a founder effect in South Asia.
Indexed as
case reporthereditary hemolytic anemianon‐coding mutation
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
An Unusual Cause of Hexokinase 1 Deficiency-Case Report. · full record | OpenQuestion