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Last Updated: 10/31/2025

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Found 205 publications

Unique, Early Prenatal Presentation of Generalized Arterial Calcification of Infancy.

Unique, Early Prenatal Presentation of Generalized Arterial Calcification of Infancy.

Journal: CASE (Philadelphia, Pa.)
Published: September 15, 2025

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.

Journal: bioRxiv : the preprint server for biology
Published: July 16, 2025

Prenatal Diagnosis and 10-Year Follow-up of Type-II Generalized Arterial Calcification of the Infancy.

Prenatal Diagnosis and 10-Year Follow-up of Type-II Generalized Arterial Calcification of the Infancy.

Journal: American journal of perinatology
Published: June 06, 2025

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

Journal: International journal of dermatology
Published: April 07, 2025

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.

Journal: JBMR plus
Published: November 07, 2024

Biology of bone mineralization and ectopic calcifications: the same actors for different plays.

Biology of bone mineralization and ectopic calcifications: the same actors for different plays.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: September 29, 2024

Generalized Arterial Calcification of Infancy (GACI).

Generalized Arterial Calcification of Infancy (GACI).

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: September 29, 2024

Clinical presentation and burden of ENPP1 deficiency in adults.

Clinical presentation and burden of ENPP1 deficiency in adults.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: September 29, 2024

Myocardial infarction and narrowed peripheral arterial vessels secondary to generalised arterial calcification syndrome in a two-month-old girl.

Myocardial infarction and narrowed peripheral arterial vessels secondary to generalised arterial calcification syndrome in a two-month-old girl.

Journal: Cardiology in the young
Published: September 13, 2024

Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report.

Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report.

Journal: Children (Basel, Switzerland)
Published: August 24, 2024

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.

Journal: BMC pediatrics
Published: August 23, 2024

Generalized arterial calcification of infancy - Fetal diagnosis to postnatal management.

Generalized arterial calcification of infancy - Fetal diagnosis to postnatal management.

Journal: Annals of pediatric cardiology
Published: August 19, 2024
Showing 1-12 of 205

Last Updated: 10/31/2025