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Journal Articles

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

Elisa Fermo, PhD, Cristina Vercellati, PhD, Anna Paola Marcello, PhD, Ebru Yilmaz Keskin, MD, Aurora Feliu Torres, MD, Silverio Perrotta, Tekin Aksu, MD, Anna Zaninoni, BS, Valentina Brancaleoni, MSc, Richard van Wijk, PhD, Sultan Aydin Koker, MD, Alberto Zanella, MD, Agostino Cortelezzi, Prof, Wilma Barcellini, MD, Paola Bianchi, BSc, PhD

Blood (2017) 130 (Supplement 1): 3480.

https://doi.org/10.1182/blood.V130.Suppl_1.3480.3480

Published: 2017

Journal Articles

A Novel Therapeutic Approach in Triosephosphate Isomerase Deficiency.

Christina Halsey, Solomon A. Ndoni, Roya Babaei-Jadidi, David Roper, Barbara J. Wild, Tom J. Vulliamy, Paul J. Thornalley, Mark Layton

Blood (2006) 108 (11): 3735.

https://doi.org/10.1182/blood.V108.11.3735.3735

Published: 2006

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

Blood (2000) 96 (3): 1130–1135.

https://doi.org/10.1182/blood.V96.3.1130

Published: 2000

Journal Articles

Reversal of Metabolic Block in Glycolysis by Enzyme Replacement in Triosephosphate Isomerase–Deficient Cells

Art Ationu, Ann Humphries, Michel R.A. Lalloz, Roopen Arya, Barbara Wild, Joanne Warrilow, Jennifer Morgan, Alastair J. Bellingham, D. Mark Layton

Blood (1999) 94 (9): 3193–3198.

https://doi.org/10.1182/blood.V94.9.3193

Published: 1999

Journal Articles

The Relationship of the −5, −8, and −24 Variant Alleles in African Americans to Triosephosphate Isomerase (TPI) Enzyme Activity and to TPI Deficiency

Arthur Schneider, Linda Forman, Beryl Westwood, Catherine Yim, James Lin, Satinder Singh, Ernest Beutler

Blood (1998) 92 (8): 2959–2962.

https://doi.org/10.1182/blood.V92.8.2959

Published: 1998

Journal Articles

A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase Deficiency

ERNEST BEUTLER, M.D., Agnes Halasz

Blood (1966) 28 (4): 553–562.

https://doi.org/10.1182/blood.V28.4.553.553

Published: 1966

NARROW

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

A Novel Therapeutic Approach in Triosephosphate Isomerase Deficiency.

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)

Reversal of Metabolic Block in Glycolysis by Enzyme Replacement in Triosephosphate Isomerase–Deficient Cells

The Relationship of the −5, −8, and −24 Variant Alleles in African Americans to Triosephosphate Isomerase (TPI) Enzyme Activity and to TPI Deficiency

A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase Deficiency

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ASH Publications

American Society of Hematology

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

A Novel Therapeutic Approach in Triosephosphate Isomerase Deficiency.

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)

Reversal of Metabolic Block in Glycolysis by Enzyme Replacement in Triosephosphate Isomerase–Deficient Cells

The Relationship of the −5, −8, and −24 Variant Alleles in African Americans to Triosephosphate Isomerase (TPI) Enzyme Activity and to TPI Deficiency

A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase Deficiency

Email alerts

ASH Publications

American Society of Hematology

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