Cargando…

Homozygous Prekallikrein Deficiency in the USA: Several Patients but Still Few Mutation Studies

Detalles Bibliográficos
Autores principales:	Girolami, Antonio, Ferrari, Silvia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934023/ https://www.ncbi.nlm.nih.gov/pubmed/33653162 http://dx.doi.org/10.1177/1076029621998773

Ejemplares similares

Prevalence of Cardiovascular Disorders in African-Americans With Congenital Prekallikrein Deficiency Versus Caucasians-Americans With the Same Defect
por: Girolami, Antonio, et al.
Publicado: (2020)

Increased Prevalence of Reported Cases of Congenital Prekallikrein Deficiency Among African Americans as Compared With the General Population of the United States
por: Girolami, Antonio, et al.
Publicado: (2020)

Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency
por: Shahverdi, Ehsan, et al.
Publicado: (2017)

PREKALLIKREIN DEFICIENCY IN MAN
por: Wuepper, Kirk D.
Publicado: (1973)

The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)
por: Ryu, Sohee, et al.
Publicado: (2019)

Worldwide Distribution of PK Deficiency: the Defect Seems Mainly Concentrated in West African Countries and the United States
por: Girolami, Antonio, et al.
Publicado: (2021)

Diagnostic Pearls and Clinical Implications of Prekallikrein Deficiency
por: Yasin, Hassaan, et al.
Publicado: (2020)

Lisinopril-Induced Angioedema in a Patient with Plasma Prekallikrein Deficiency
por: Dasgupta, Swapan K., et al.
Publicado: (2020)

Severe Prekallikrein Deficiency Associated with Low Level of Factor XII: A Case Report
por: Shahbazi, Massoumeh, et al.
Publicado: (2021)

The Dysprothrombinemias due to Arg596 Mutations: A Conundrum With No Bleeding Tendency and Venous Thrombosis due to Antithrombin Resistance
por: Girolami, Antonio, et al.
Publicado: (2019)

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency
por: Colima Fausto, Ana Gabriela, et al.
Publicado: (2017)

A PREALBUMIN ACTIVATOR OF PREKALLIKREIN : II. DERIVATION OF ACTIVATORS OF PREKALLIKREIN FROM ACTIVE HAGEMAN FACTOR BY DIGESTION WITH PLASMIN
por: Kaplan, Allen P., et al.
Publicado: (1971)

A PREALBUMIN ACTIVATOR OF PREKALLIKREIN : III. APPEARANCE OF CHEMOTACTIC ACTIVITY FOR HUMAN NEUTROPHILS BY THE CONVERSION OF HUMAN PREKALLIKREIN TO KALLIKREIN
por: Kaplan, Allen P., et al.
Publicado: (1972)

Prekallikrein Deficiency Presenting as Recurrent Cerebrovascular Accident: Case Report and Review of the Literature
por: Bojanini, Esteban Uribe, et al.
Publicado: (2012)

PLASMA PREKALLIKREIN: ISOLATION, CHARACTERIZATION, AND MECHANISM OF ACTIVATION
por: Wuepper, Kirk D., et al.
Publicado: (1972)

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ()
por: Burns, Siobhan O., et al.
Publicado: (2014)

Factors influencing severe community-acquired pneumonia few points to ponder
por: Pius, AK Aswin, et al.
Publicado: (2018)

A Case of Para-Bombay Phenotype Caused by Homozygous Mutation of the FUT1 Gene
por: Yu, Jung-Kuang, et al.
Publicado: (2017)

A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
por: Lee, Su Jeong, et al.
Publicado: (2019)

Association Between Prekallikrein and Stroke: A Mendelian Randomization Study
por: Wang, Yinan, et al.
Publicado: (2023)

Lymphocytic Choriomeningitis with Severe Manifestations, Missouri, USA
por: Folk, Scott, et al.
Publicado: (2011)

The Involvement of Proteoglycans in the Human Plasma Prekallikrein Interaction with the Cell Surface
por: Veronez, Camila Lopes, et al.
Publicado: (2014)

Plasma Prekallikrein: Its Role in Hereditary Angioedema and Health and Disease
por: Schmaier, Alvin H.
Publicado: (2018)

Development of an updated assay for prekallikrein activator in albumin and immunoglobulin therapeutics
por: Roberts, Graham, et al.
Publicado: (2020)

Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant
por: Kutukculer, Necil, et al.
Publicado: (2021)

Autoinflammation due to homozygous S208 MEFV mutation
por: Hong, Ying, et al.
Publicado: (2019)

Severe Necrotizing Pneumonia in Children, Houston, Texas, USA
por: Kalaskar, Anupama S., et al.
Publicado: (2009)

A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System
por: Riano, Ivy, et al.
Publicado: (2021)

Parenteral nutrition: Few more facts
por: Roy, Preety Mittal, et al.
Publicado: (2010)

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
por: Tan, Ryan, et al.
Publicado: (2023)

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
por: Yang, Shi-Lin, et al.
Publicado: (2020)

A novel homozygous loss-of-function mutation in RAD51AP2 induces male infertility with nonobstructive azoospermia
por: Liu, Liu, et al.
Publicado: (2022)

Significance of case reports: Few facts more
por: Gautam, Manoj, et al.
Publicado: (2011)

Airway management: Few more lessons to learn
por: Roy, Preety M., et al.
Publicado: (2016)

Rare Locations of Schwannomas: A Few Comments
por: Ghobadifar, Mohamed Amin
Publicado: (2015)

Integrative Weaning Index: A Few Observations
por: Ray, Animesh
Publicado: (2017)

Violence against doctor – few points to be focussed
por: Thangaraju, Pugazhenthan
Publicado: (2020)

Whither thiotepa (for patients in the USA)?
por: Dardis, Christopher, et al.
Publicado: (2015)

Homozygous Southeast Asian ovalocytosis in five live-born neonates
por: Lavinya, Amanda A., et al.
Publicado: (2020)

Construction of homozygous diploid potato through maternal haploid induction
por: Zhang, Jinzhe, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bt445n7e947ju85u9trhoc2jmc