MPI-CDG with transient hypoglycosylation and antithrombin deficiency

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Haematologica
المؤلفون الرئيسيون:	María Eugenia de la Morena-Barrio, Ewa Wypasek, Danuta Owczarek, Antonia Miñano, Vicente Vicente, Javier Corral, Anetta Undas
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Ferrata Storti Foundation 2019-02-01
الوصول للمادة أونلاين:	https://haematologica.org/article/view/8793

مواد مشابهة

Incidence and features of thrombosis in children with inherited antithrombin deficiency
حسب: Belén de la Morena-Barrio, وآخرون
منشور في: (2019-12-01)

Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect
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منشور في: (2023-04-01)

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
حسب: Mara Toderici, وآخرون
منشور في: (2016-01-01)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
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منشور في: (2020-08-01)

Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation
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منشور في: (2010-08-01)

P1699: ANTITHROMBIN DEFICIENCY IS ASSOCIATED WITH PROTHROMBOTIC FIBRIN CLOT PHENOTYPE
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منشور في: (2022-06-01)

Functional consequences of the prothrombotic SERPINC1 rs2227589 polymorphism on antithrombin levels
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منشور في: (2009-04-01)

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect
حسب: Carlos Bravo-Pérez, وآخرون
منشور في: (2022-10-01)

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
حسب: Roberto García-López, وآخرون
منشور في: (2016-01-01)

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
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منشور في: (2016-01-01)

Functional, biochemical, and clinical characterization of natural mutations affecting arginine residues in the heparin‐binding site of antithrombin
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Transient deficiency of antithrombin during pregnancy in a woman with a history of reproductive losses
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منشور في: (2018-08-01)

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia
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Good metabolic control is associated with decreased circulating factor VIIa– antithrombin complexes in type 2 diabetes: a cross-sectional study
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Cerebral Apolipoprotein-D Is Hypoglycosylated Compared to Peripheral Tissues and Is Variably Expressed in Mouse and Human Brain Regions.
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منشور في: (2016-01-01)

Novel Splice Site Mutation in the <i>PROS1</i> Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7
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منشور في: (2020-09-01)

Antithrombin supplementation to prevent venous thromboembolism: A case of hereditary antithrombin deficiency with increased antithrombin clearance during pregnancy and peripartum
حسب: Ayako Kaneda-Takeuchi, وآخرون
منشور في: (2025-06-01)

Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site.
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منشور في: (2016-01-01)

Successful administration of recombinant human antithrombin in a pregnant Japanese woman with hereditary antithrombin deficiency
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منشور في: (2019-11-01)

Hereditary Antithrombin Deficiency in Pediatric Patients: Pathophysiology, Clinical Features, Diagnosis, and Antithrombin Replacement Therapy
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منشور في: (2026-02-01)

MAN1B1 deficiency: an unexpected CDG-II.
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Increased N-glycosylation efficiency by generation of an aromatic sequon on N135 of antithrombin.
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Correction of Antithrombin III Deficiency in Disseminated Intravascular Coagulation
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Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families
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منشور في: (2023-06-01)

Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis
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منشور في: (2023-10-01)

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)
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منشور في: (2023-03-01)

Identification of two point mutations associated with inherited antithrombin deficiency
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منشور في: (2024-12-01)

Thrombosis-related characteristics of pregnant women with antithrombin deficiency, protein C deficiency and protein S deficiency in Japan
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Antithrombin III deficiency and idiopathic intracranial hypertension: a case report
حسب: Mansoureh Togha, وآخرون
منشور في: (2025-01-01)

A successful outcome of pregnancy in a patient with congenital antithrombin deficiency
حسب: Kovač Mirjana, وآخرون
منشور في: (2011-01-01)

Protein C and antithrombin III deficiency in an elderly patient presenting with pulmonary embolism
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Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy
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منشور في: (2021-01-01)

Combined life-threatening thromboses and hemorrhages in a patient with afibrinogenemia and antithrombin deficiency
حسب: S. Le Quellec, وآخرون
منشور في: (2018-04-01)

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency
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منشور في: (2023-01-01)

Five Challenging Cases of Hereditary Antithrombin Deficiency Characterized by Thrombosis or Complicated Pregnancy
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Elements of Immunoglobulin E Network Associate with Aortic Valve Area in Patients with Acquired Aortic Stenosis
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