Results 11 to 20 of about 883 (159)

Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 46, Issue 10, Page 1676-1679, September 2026.
Tekesin I, Kerst G, Chiaie LD, Dinwiddie A, Gabriel H.   +4 more
europepmc   +2 more sources

Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant

Frontiers in Cardiovascular Medicine, 2023
Generalized arterial calcification of infancy (GACI) is a rare genetic disease characterized by arterial calcifications or stenoses and hypertension.
Pengtao Lu, Jinglong Chen, Mei Chen, Ling Wang, Dandan Xiang, Jie Yin, Shiwei Yang   +6 more
doaj   +1 more source

Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report. [PDF]

J Clin Hypertens (Greenwich)
ABSTRACT Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in ABCC6, leading to progressive calcification of elastic fibers. Although PXE typically presents in adolescence with dermatologic or ocular manifestations, early vascular involvement, including pediatric hypertension, is increasingly recognized.
Flogelova H, Pospisilova D, Bakaj-Zbrozkova L, Sochorcova L, Manakova J, Kriegova E, Koralkova P, Hlusickova Kapralova K, Horvathova M.   +8 more
europepmc   +2 more sources

Thuật toán di truyền trong phân tích chùm ảnh dựa trên sự trích xuất những khoảng đặc trưng

Tạp chí Khoa học Đại học Cần Thơ, 2020
Dựa trên việc trích xuất khoảng dữ liệu từ ma trận đồng hiện mức xám, nghiên cứu này đề xuất thuật toán di truyền trong phân tích chùm cho các hình ảnh (GACI). Thuật toán có thể xác định số chùm thích hợp và tìm các phần tử trong mỗi chùm. GACI được thực
Pham Toan Dinh, Võ Văn Tài
doaj   +3 more sources

Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy

Bone Reports, 2020
Background: Generalised arterial calcification of infancy (GACI) is a rare disorder characterised by the deposition of hydroxyapatite crystals within the vessel walls. It is associated with a high mortality rate.
Neha Agarwal, Umber Agarwal, Zarko Alfirevic, Joyce Lim, Musa Kaleem, Caren Landes, M. Zulf Mughal, R. Ramakrishnan   +7 more
doaj   +1 more source

Hypercementosis Associated with ENPP1 Mutations and GACI [PDF]

Journal of Dental Research, 2017
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (P i ) and pyrophosphate (PP i ). Three regulators that control pericellular concentrations of P i and PP
V, Thumbigere-Math, A, Alqadi, N I, Chalmers, M B, Chavez, E Y, Chu, M T, Collins, C R, Ferreira, K, FitzGerald, R I, Gafni, W A, Gahl, K S, Hsu, M S, Ramnitz, M J, Somerman, S G, Ziegler, B L, Foster   +14 more
openaire   +2 more sources

Molecular diagnosis of generalized arterial calcification of infancy (GACI) [PDF]

Journal of Cardiovascular Disease Research, 2012
Generalized arterial calcification of infancy (GACI) is a life-threatening disorder in young infants. Cardiovascular symptoms are usually apparent within the first month of life. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries.
Kalal, Iravathy Goud, Seetha, Dayakar, Panda, Anuradha, Nitschke, Yvonne, Rutsch, Frank   +4 more
openaire   +2 more sources

Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review

Frontiers in Cardiovascular Medicine, 2022
IntroductionGeneralized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and ...
Amalia Fãgãrãşan, Amalia Fãgãrãşan, Liliana Gozar, Liliana Gozar, Simina-Elena Rusu Ghiragosian, Mircea Murariu, Marian Pop, Marian Pop, Andrei Crauciuc, Diana Miclea, Carmen Corina Şuteu   +10 more
doaj   +1 more source

Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

Diagnostics, 2021
Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, with severe and diffuse early onset of calcifications along the internal elastic lamina in large and medium size arteries.
Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, Silvia Graziani, Maria Bellizzi, Christoph Peter Bagowski, Moneef Shoukier, Francesca Rivieri, Massimo Soffiati, Mattia Barbareschi   +9 more
doaj   +1 more source

From the voice of patients and caregivers: Burden of illness in infantile onset ABCC6 and ENPP1 deficiency (GACI and ARHR2)

Bone Reports, 2021
Christine O'Brien, Beth Leiro, Gus Khursigara, Catherine Nester, Pedro Huertas   +4 more
doaj   +2 more sources