2022
DOI: 10.1371/journal.pone.0270632
|View full text |Cite
|
Sign up to set email alerts
|

Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective

Abstract: The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficiency or infant onset ABCC6 Deficiency often present with pathological calcification, narrowed blood vessels, multiorgan dysfunction and high infant mortality. The heterogenous presentation and progression is well documented. Our objective was to characterize how these… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1

Citation Types

0
1
0

Year Published

2022
2022
2022
2022

Publication Types

Select...
1

Relationship

0
1

Authors

Journals

citations
Cited by 1 publication
(1 citation statement)
references
References 19 publications
0
1
0
Order By: Relevance
“…Only a few cases of survivors into later childhood or adulthood are reported ( 30 32 ). O’Brien et al evaluated the lifelong impact of ENPP1 deficiency and the early onset form of ABCC6 deficiency from a patient or caregiver perspective and concluded that these morbidities are debilitating diseases with lifelong morbidity, including pain and impaired mobility, and those who are affected experience impairment of quality of life and psychosocial issues throughout life ( 33 ).…”
Section: Discussionmentioning
confidence: 99%
“…Only a few cases of survivors into later childhood or adulthood are reported ( 30 32 ). O’Brien et al evaluated the lifelong impact of ENPP1 deficiency and the early onset form of ABCC6 deficiency from a patient or caregiver perspective and concluded that these morbidities are debilitating diseases with lifelong morbidity, including pain and impaired mobility, and those who are affected experience impairment of quality of life and psychosocial issues throughout life ( 33 ).…”
Section: Discussionmentioning
confidence: 99%