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Quoted phrase not found in phrase index: "Infantile liver failure syndrome 3"
Page 1
Failure to Thrive in the Context of Carney Complex.
Tirosh A, Auerbach A, Bonella B, Zavras PD, Belyavskaya E, Lyssikatos C, Meir K, Weiss R, Daum H, Lodish MB, Gillis D, Stratakis CA. Tirosh A, et al. Horm Res Paediatr. 2018;89(1):38-46. doi: 10.1159/000484690. Epub 2017 Nov 21. Horm Res Paediatr. 2018. PMID: 29161691 Free article.
RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC. ...FTT due to liver disease and/or other causes is a unique new presentation of this r …
RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; th …
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.
Vara R, Pinon M, Fratter C, Hegarty R, Hadzic N. Vara R, et al. J Inherit Metab Dis. 2023 Jul;46(4):634-648. doi: 10.1002/jimd.12633. Epub 2023 May 28. J Inherit Metab Dis. 2023. PMID: 37204315
In total, 24 (13 male) children were identified: 7 POLG, 7 DGUOK, and 10 MPV17. Median age at presentation was 3 months (0.06-189). Sixteen had acute liver failure (ALF) and eight chronic cholestasis and/or raised transaminases. Four POLG patients developed …
In total, 24 (13 male) children were identified: 7 POLG, 7 DGUOK, and 10 MPV17. Median age at presentation was 3 months (0.06-189). S …
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E. Veys K, et al. J Inherit Metab Dis. 2023 Jan;46(1):43-54. doi: 10.1002/jimd.12562. Epub 2022 Oct 6. J Inherit Metab Dis. 2023. PMID: 36117148
Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). ...Siblings treated with cysteamine from the onset of symptoms at …
Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, …
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.
Alsaleem BM, Hasosah M, Ahmed ABM, Al Hatlani MM, Alanazi AH, Al-Hussaini A, Asery AT, Alghamdi KA, AlRuwaithi MM, Khormi MAM, Al Sarkhy A, Alshamrani AS. Alsaleem BM, et al. Saudi J Gastroenterol. 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21. Saudi J Gastroenterol. 2022. PMID: 34414925 Free PMC article.
BACKGROUND: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. ...The vast majority of cases (89.6%) had biallelic varian …
BACKGROUND: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woo …
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
Zheng Y, Guo H, Chen L, Cheng W, Yan K, Zhang Z, Li M, Jin Y, Hu G, Wang C, Zhou C, Zhou W, Jia Z, Zheng B, Liu Z. Zheng Y, et al. Hepatol Int. 2024 Apr;18(2):661-672. doi: 10.1007/s12072-023-10553-6. Epub 2023 Jun 14. Hepatol Int. 2024. PMID: 37314652
BACKGROUND AND AIMS: Cholestatic liver disease is a leading referral to pediatric liver transplant centers. ...RESULTS: Overall, we identified disease-causing variants in 31% (52/166) of our study participants. Of the 52 individuals, 18 (35%) had metabolic liver …
BACKGROUND AND AIMS: Cholestatic liver disease is a leading referral to pediatric liver transplant centers. ...RESULTS: Overal …
Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review.
Harding BN. Harding BN. J Child Neurol. 1990 Oct;5(4):273-87. doi: 10.1177/088307389000500402. J Child Neurol. 1990. PMID: 2246481 Review.
Thirty-two autopsied cases of progressive neuronal degeneration of childhood with liver disease are reviewed. The typical clinical course is intractable seizures and liver failure following a period of developmental delay and failure to thrive in early …
Thirty-two autopsied cases of progressive neuronal degeneration of childhood with liver disease are reviewed. The typical clinical co …
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW. Al-Hussaini A, et al. J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082. Epub 2013 Dec 8. J Pediatr. 2014. PMID: 24321534
OBJECTIVE: To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to …
OBJECTIVE: To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver f …
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
Moreira-Silva H, Maio I, Bandeira A, Gomes-Martins E, Santos-Silva E. Moreira-Silva H, et al. Eur J Pediatr. 2019 Apr;178(4):515-523. doi: 10.1007/s00431-019-03328-5. Epub 2019 Jan 28. Eur J Pediatr. 2019. PMID: 30693370
Recently, next-generation sequencing (NGS) panels have emerged as an appealing tool to diagnose neonatal/infantile cholestatic disorders. The aim of this study was to identify clinical phenotypes of liver injury and contribute to find a diagnostic methodology that i …
Recently, next-generation sequencing (NGS) panels have emerged as an appealing tool to diagnose neonatal/infantile cholestatic disord …
A New Perspective for Infantile Hepatic Hemangioma in the Age of Propranolol: Experience at Baskent University.
Sarıalioğlu F, Yazıcı N, Erbay A, Boyvat F, Demir Ş, Özçay F, Uslu N. Sarıalioğlu F, et al. Exp Clin Transplant. 2017 Mar;15(Suppl 2):74-78. doi: 10.6002/ect.TOND16.L19. Exp Clin Transplant. 2017. PMID: 28302004 Free article.
Respiratory problems and hepatic failure can be associated with diffuse nodular-type liver hemangiomas. ...This protocol is the most effective strategy for type 3 infantile hepatic hemangioma. Approximately one-third of patients with abdominal compartm …
Respiratory problems and hepatic failure can be associated with diffuse nodular-type liver hemangiomas. ...This protocol is th …
Change of Outcomes in Pediatric Intestinal Failure: Use of Time-Series Analysis to Assess the Evolution of an Intestinal Rehabilitation Program.
Oliveira C, de Silva NT, Stanojevic S, Avitzur Y, Bayoumi AM, Ungar WJ, Hoch JS, Wales PW. Oliveira C, et al. J Am Coll Surg. 2016 Jun;222(6):1180-1188.e3. doi: 10.1016/j.jamcollsurg.2016.03.007. Epub 2016 Mar 18. J Am Coll Surg. 2016. PMID: 27067452
STUDY DESIGN: Consecutive patients (n = 196) with neonatal or infantile intestinal failure, born between July 1996 and December 2011, were derived from an intestinal rehabilitation program (IRP) patient registry. ...The primary outcome was disease-specific mortality …
STUDY DESIGN: Consecutive patients (n = 196) with neonatal or infantile intestinal failure, born between July 1996 and Decembe …
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