Search details
1.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(2): 282-293, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38172257
2.
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(4): 717, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38347083
3.
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.
J Clin Immunol
; 44(5): 108, 2024 Apr 27.
Article
in English
| MEDLINE | ID: mdl-38676845
4.
Evaluation of Gastrointestinal System Complaints and Comorbidities in Pediatric Familial Mediterranean Fever Patients.
J Clin Rheumatol
; 29(8): 375-380, 2023 Dec 01.
Article
in English
| MEDLINE | ID: mdl-37723615
5.
A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.
J Pediatr Hematol Oncol
; 43(4): e592-e595, 2021 05 01.
Article
in English
| MEDLINE | ID: mdl-32287105
6.
Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.
J Inherit Metab Dis
; 43(3): 496-506, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31769880
7.
Assessment of cows milk-related symptom scoring awareness tool in young Turkish children.
J Paediatr Child Health
; 56(11): 1799-1805, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32468665
8.
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
Gastroenterology
; 155(1): 130-143.e15, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29604290
9.
The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease.
J Pediatr Gastroenterol Nutr
; 68(3): 371-376, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30540705
10.
Allogeneic hematopoietic stem cell and liver transplantation in a young girl with dedicator of cytokinesis 8 protein deficiency.
Pediatr Transplant
; 23(7): e13545, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31297914
11.
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Genet Med
; 20(10): 1255-1265, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29419818
12.
The Clinical Journey of a Patient with Familial Mediterranean Fever: One Gene, Three Diseases.
Klin Padiatr
; 2023 Mar 17.
Article
in English
| MEDLINE | ID: mdl-36931310
13.
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
J Clin Immunol
; 37(8): 790-800, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28956255
14.
Rare cause of ascites and jaundice in infancy: Spontaneous bile duct perforation.
J Paediatr Child Health
; 58(9): 1669-1671, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35037727
15.
Mesalamine Intolerance in Three Children with Crohn's Disease.
Med Princ Pract
; 25(3): 293-5, 2016.
Article
in English
| MEDLINE | ID: mdl-26630041
16.
Yield of coeliac screening in abdominal pain-associated functional gastrointestinal system disorders.
J Paediatr Child Health
; 51(11): 1066-70, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26041019
17.
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
J Allergy Clin Immunol
; 133(6): 1651-9.e12, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24746753
18.
Gastric carcinoid tumor in a 14-year old girl.
Scand J Gastroenterol
; 49(11): 1391-3, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25180819
19.
Cyclosporine-associated thrombotic microangiopathy and thrombocytopenia-associated multiple organ failure: a case successfully treated with therapeutic plasma exchange.
J Pediatr Hematol Oncol
; 36(2): e88-90, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-23619107
20.
Valproic acid-induced acute pancreatitis and multiorgan failure in a child.
Pediatr Emerg Care
; 29(5): 659-61, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23640149