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Journal Articles

Response: Screening for treatable disease is better than just screening for hemochromatosis

Jill Waalen, Vincent J. Felitti, Terri Gelbart, Ernest Beutler
Journal: Blood
Blood (2008) 111 (7): 3897.
https://doi.org/10.1182/blood-2008-01-132977
Published: 2008
Journal Articles

Screening for hemochromatosis by measuring ferritin levels: a more effective approach

Clinical Trials & Observations
Jill Waalen, Vincent J. Felitti, Terri Gelbart, Ernest Beutler
Journal: Blood
Blood (2008) 111 (7): 3373–3376.
https://doi.org/10.1182/blood-2007-07-102673
Published: 2008
Journal Articles

The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.

Ernest Beutler, MD, Pauline Lee, PhD, Terri Gelbart, BS, Xin Du, PhD, Bruce Beutler, MD
Journal: Blood
Blood (2007) 110 (11): 3.
https://doi.org/10.1182/blood.V110.11.3.3
Published: 2007
Journal Articles

Molecular characterization of a third case of human atransferrinemia

A.S. Knisely, Terri Gelbart, Ernest Beutler
Journal: Blood
Blood (2004) 104 (8): 2607.
https://doi.org/10.1182/blood-2004-05-1751
Published: 2004
Journal Articles

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency

Richard van Wijk, Wouter W. van Solinge, Claus Nerlov, Ernest Beutler, Terri Gelbart, Gert Rijksen, Finn C. Nielsen
Journal: Blood
Blood (2003) 101 (4): 1596–1602.
https://doi.org/10.1182/blood-2002-07-2321
Published: 2003
Journal Articles

Tumor necrosis factor α promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A (C282Y) hereditary hemochromatosis mutation

Ernest Beutler, Terri Gelbart
Journal: Blood
Blood (2002) 100 (6): 2268.
https://doi.org/10.1182/blood-2002-05-1520
Published: 2002
Journal Articles

Molecular characterization of a case of atransferrinemia

Clinical Trials & Observations
Ernest Beutler, Terri Gelbart, Pauline Lee, Reneé Trevino, Mark A. Fernandez, Virgil F. Fairbanks
Journal: Blood
Blood (2000) 96 (13): 4071–4074.
https://doi.org/10.1182/blood.V96.13.4071
Published: 2000
Journal Articles

Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris)

Colette Valentin, Serge Pissard, Josiane Martin, Delphine Héron, Philippe Labrune, Marie-Odile Livet, Michèle Mayer, Terri Gelbart, Arthur Schneider, Isabelle Max-Audit, Michel Cohen-Solal
Journal: Blood
Blood (2000) 96 (3): 1130–1135.
https://doi.org/10.1182/blood.V96.3.1130
Published: 2000
Journal Articles

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

Ernest Beutler, Terri Gelbart
Journal: Blood
Blood (2000) 95 (11): 3585–3588.
https://doi.org/10.1182/blood.V95.11.3585
Published: 2000
Journal Articles

The Molecular Basis of a Case of γ-Glutamylcysteine Synthetase Deficiency

Ernest Beutler, Terri Gelbart, Takahito Kondo, Alison T. Matsunaga
Journal: Blood
Blood (1999) 94 (8): 2890–2894.
https://doi.org/10.1182/blood.V94.8.2890.420k16_2890_2894
Published: 1999
Journal Articles

Coinheritance of Alleles Associated With Hemochromatosis and Hereditary Hyperferritinemia-Cataract Syndrome

James C. Barton, Ernest Beutler, Terri Gelbart
Journal: Blood
Blood (1998) 92 (11): 4480–4481.
https://doi.org/10.1182/blood.V92.11.4480
Published: 1998