Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.
Adolescent
Bilirubin
/ blood
Brain Diseases
/ blood
Crigler-Najjar Syndrome
/ blood
Female
Glucuronosyltransferase
/ genetics
Homozygote
Humans
Infant, Newborn
Kaplan-Meier Estimate
Liver Cirrhosis
/ blood
Liver Transplantation
/ methods
Male
Phototherapy
/ methods
Risk Assessment
Serum Albumin
/ analysis
United States
Journal
Hepatology (Baltimore, Md.)
ISSN: 1527-3350
Titre abrégé: Hepatology
Pays: United States
ID NLM: 8302946
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
12
06
2019
accepted:
04
09
2019
pubmed:
26
9
2019
medline:
29
4
2021
entrez:
26
9
2019
Statut:
ppublish
Résumé
We describe the pathophysiology, treatment, and outcome of Crigler-Najjar type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient-years. Unbound ("free") bilirubin (B Seven decades after its discovery, CN1 remains a morbid and potentially fatal disorder.
Sections du résumé
BACKGROUND AND AIMS
We describe the pathophysiology, treatment, and outcome of Crigler-Najjar type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient-years.
APPROACH AND RESULTS
Unbound ("free") bilirubin (B
CONCLUSION
Seven decades after its discovery, CN1 remains a morbid and potentially fatal disorder.
Identifiants
pubmed: 31553814
doi: 10.1002/hep.30959
pmc: PMC7909716
mid: NIHMS1671695
doi:
Substances chimiques
Serum Albumin
0
UGT1A1 enzyme
EC 2.4.1.-
Glucuronosyltransferase
EC 2.4.1.17
Bilirubin
RFM9X3LJ49
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1923-1939Subventions
Organisme : NIDDK NIH HHS
ID : P30 DK120531
Pays : United States
Informations de copyright
© 2019 by the American Association for the Study of Liver Diseases.
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