1.
Clin Genet
; 99(5): 740-741, 2021 05.
Article
in English
| MEDLINE
| ID: mdl-33427306
Subject(s)
Abnormalities, Multiple/genetics , Esophageal Achalasia/genetics , Intracellular Signaling Peptides and Proteins/genetics , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/physiopathology , Child , Esophageal Achalasia/diagnostic imaging , Esophageal Achalasia/physiopathology , Female , Humans , Syndrome
2.
Rev. esp. enferm. dig
; 109(11): 801-802, nov. 2017.
Article
in Spanish
| IBECS
| ID: ibc-167795
ABSTRACT
No disponible
Subject(s)
Humans , Male , Child , Jaundice, Chronic Idiopathic/complications , Jaundice, Chronic Idiopathic/diagnosis , Bilirubin/analysis , Peritonitis/complications , Peritonitis/surgery , Jaundice, Chronic Idiopathic/genetics , Leukocytosis/blood , Leukocytosis/diagnosis , Hyperbilirubinemia/blood , Hyperbilirubinemia/diagnosis
3.
Rev Esp Enferm Dig
; 109(11): 801-802, 2017 Nov.
Article
in English
| MEDLINE
| ID: mdl-29032691
ABSTRACT
Dubin-Johnson syndrome is a rare benign inherited disorder, caused by mutations in ABCC2 gen, and it is characterized by predominantly conjugated hyperbilirubinemia that can be increased by intercurrent infectious illnesses or surgical procedures. We report the case of a 10 year-old patient who showed, after a surgical procedure for peritonitis due to appendicitis, jaundice and predominantly conjugated hyperbilirubinemia, and he was diagnosed with Dubin-Johnson syndrome by genetic testing.
Subject(s)
Hyperbilirubinemia/etiology , Hyperbilirubinemia/genetics , Jaundice, Chronic Idiopathic/genetics , Postoperative Complications/genetics , Adult , Appendicitis/surgery , Genetic Testing , Humans , Male , Multidrug Resistance-Associated Protein 2 , Multidrug Resistance-Associated Proteins/genetics
4.
An. pediatr. (2003. Ed. impr.)
; 87(2): 113-115, ago. 2017. graf, ilus
Article
in Spanish
| IBECS
| ID: ibc-165537
ABSTRACT
No disponible
Subject(s)
Humans , Male , Child, Preschool , Developmental Disabilities/genetics , Translocation, Genetic/genetics , Intellectual Disability/genetics , Genetic Diseases, Inborn/genetics , Haploinsufficiency/genetics
5.
An Pediatr (Barc)
; 87(2): 113-115, 2017 Aug.
Article
in Spanish
| MEDLINE
| ID: mdl-27986448
