Results 101 to 110 of about 173,392,339 (131)

Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology. [PDF]

Int J Mol Sci
Heiduschka P, Nitschke Y, Clemens C, Storp J, Eter N, Rutsch F.   +5 more
europepmc   +1 more source

Monckeberg's Medial Sclerosis in Athletes: Report of Two Cases and Possible Pathophysiological Mechanisms. [PDF]

Diagnostics (Basel)
Nigris L, Pattis P, Lombardi A, Gutmann B, Tröbinger C, Ferro F, Marschang P.   +6 more
europepmc   +1 more source

Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion. [PDF]

J Endocrinol Invest
Bruno I, De Sanctis L, Foligno NE, Giambò F, Mora S, Parolin M, Vezzoli G.   +6 more
europepmc   +1 more source

When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia. [PDF]

Curr Osteoporos Rep
Ferreira CR, Imel EA.
europepmc   +1 more source

Circulating Levels of Inorganic Pyrophosphate Influence the Risk and Clinical Outcomes in Calciphylaxis. [PDF]

JACC Adv
Nigwekar SU, Chewcharat A, O'Brien K, Arthur E, Howe J, Laurion L, Husson H, Bouchouari H, Seto A, Sabbagh Y.   +9 more
europepmc   +1 more source

Editorial: Cardiovascular calcification: disease mechanisms, clinical phenotypes and therapeutic strategies. [PDF]

Front Cardiovasc Med
Nollet L, Leftheriotis G, Vanakker OM.
europepmc   +1 more source

Generalized Arterial Calcification of Infancy: Two Siblings With Prolonged Survival

European Journal of Pediatrics, 2006
In generalized arterial calcification of infancy (OMIM no. 208000), calcification of the media and proliferation of the intima lead to arterial stenoses.
Frank Rutsch, Dirk Schnabel, Giovanni Ciana   +2 more
exaly   +4 more sources

An Unusual Severe Vascular Case of Pseudoxanthoma Elasticum Presenting as Generalized Arterial Calcification of Infancy

American Journal of Medical Genetics, Part A, 2010
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease affecting tissues rich in elastic fibers such as the skin, retina, and cardiovascular system. Mutations in the ABCC6 gene are known to be causative in most patients.
Leon Schurgers, N Chassaing, A Croue
exaly   +5 more sources

Some of the next articles are maybe not open access.

Related searches:

Prenatal diagnosis of generalized arterial calcification of infancy in the second trimester

Prenatal Diagnosis, 2022
AbstractObjectivesGeneralized arterial calcification of infancy (GACI) is a rare autosomal recessive disorder characterized by subintimal fibrous proliferation and deposition of calcium salts in the internal elastic lamina, leading to extensive arterial calcification and stenosis of large and medium‐sized arteries. Prenatal diagnosis is usually made in
Lihong Pu, Xiaohui Dai, Hanmin Liu, Lei Li, Fumin Zhao, Jiao Chen   +5 more
openaire   +2 more sources