2021
DOI: 10.1016/j.jpurol.2021.01.017
|View full text |Cite
|
Sign up to set email alerts
|

Urofacial (ochoa) syndrome: A literature review

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1

Citation Types

0
16
0

Year Published

2022
2022
2024
2024

Publication Types

Select...
6
2

Relationship

0
8

Authors

Journals

citations
Cited by 12 publications
(16 citation statements)
references
References 64 publications
0
16
0
Order By: Relevance
“…Inf.) 68,174,175 . This indicates that both SULF2 and HPSE2 are required for normal homeostasis and basal response to stimuli.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Inf.) 68,174,175 . This indicates that both SULF2 and HPSE2 are required for normal homeostasis and basal response to stimuli.…”
Section: Resultsmentioning
confidence: 99%
“…This indicates that both SULF2 and HPSE2 are required for normal homeostasis and basal response to stimuli. The involvement of HPSE2 in response to stimuli was confirmed in the homozygous Hpse2 gene trap mouse, which developed normally but showed deficient responses to chemical and electrical field stimulation and showed low weight gain after weaning and died early in life 174,175 . In the other side, both Sulf1 -/and hpse -/mice develop and live normally, are anatomically normal fertile, and show non overt phenotypes 14,186 (included in Group III).…”
Section: Hs Chain Remodeling and Biosynthesis Arrestmentioning
confidence: 87%
“…Urofacial (Ochoa) syndrome (UFS) is rare autosomal recessive disease featuring urinary voiding dysfunction and a grimace upon smiling ( Elejalde, 1979 ; Ochoa 2004 ; Newman and Woolf, 2018 ; Osorio et al, 2021 ). The urinary tract phenotype is characterized by bladder dyssynergia, with the detrusor contracting against and incompletely dilated outflow tract.…”
Section: Introductionmentioning
confidence: 99%
“…Urofacial, or Ochoa, syndrome (UFS), is an autosomal recessive condition causing lifelong ill health with potentially fatal complications (Ochoa 2004;Osorio et al, 2021). Affected females and males have dyssynergic bladders in which the detrusor smooth muscle (DSM) in the bladder body contracts against an outflow tract that fails to dilate fully.…”
Section: Introductionmentioning
confidence: 99%