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Quoted phrase not found in phrase index: "Infantile liver failure syndrome 3"
Page 1
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants affecting the C-terminal region of NBAS result in SOPH syndrome (short stature, optic atrophy, Pelger-Huet anomaly), variants affecting the Sec 39 …
Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants affecting the …
Syndromic (phenotypic) diarrhea in early infancy.
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP. Goulet O, et al. Orphanet J Rare Dis. 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. Orphanet J Rare Dis. 2008. PMID: 18304370 Free PMC article. Review.
Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). ...Some infants have a rather milder phenotype wi …
Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enter …
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 …
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 …
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 …
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 …
Infantile hepatic hemangiomas: clinical and imaging findings and their correlation with therapy.
Kassarjian A, Zurakowski D, Dubois J, Paltiel HJ, Fishman SJ, Burrows PE. Kassarjian A, et al. AJR Am J Roentgenol. 2004 Mar;182(3):785-95. doi: 10.2214/ajr.182.3.1820785. AJR Am J Roentgenol. 2004. PMID: 14975986
The pattern of massive replacement of liver was associated with hypothyroidism, abdominal compartment syndrome, and a high mortality rate. ...MRI is the technique of choice in diagnosing infantile hepatic masses....
The pattern of massive replacement of liver was associated with hypothyroidism, abdominal compartment syndrome, and a high mor …
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.
Huang AC, Ebel NH, Romero D, Martin B, Jhun I, Brown M, Enns GM, Esquivel C, Bonham C. Huang AC, et al. Pediatr Transplant. 2022 Aug;26(5):e14274. doi: 10.1111/petr.14274. Epub 2022 Apr 24. Pediatr Transplant. 2022. PMID: 35466509
BACKGROUND: MPV17-related mitochondrial DNA maintenance defect (MPV17 deficiency) is a rare, autosomal recessive mitochondrial DNA depletion syndrome with a high mortality rate in infancy and early childhood due to progression to liver failure. ...METHODS: We …
BACKGROUND: MPV17-related mitochondrial DNA maintenance defect (MPV17 deficiency) is a rare, autosomal recessive mitochondrial DNA depletion …
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 …
Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China
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Tang X, Xu H, Shen Q, Li G, Rao J, Chen J, Zhai Y, Miao Q. Tang X, et al. Clin Nephrol. 2019 Aug;92(2):89-94. doi: 10.5414/CN109571. Clin Nephrol. 2019. PMID: 31131822
The mutation sites were verified in children and their parents using Sanger direct sequencing. RESULTS: Among the 5 patients (3 male and 2 female), 2 patients had infantile NPH, and 3 patients had juvenile NPH. The 2 infantile NPH patients were charact …
The mutation sites were verified in children and their parents using Sanger direct sequencing. RESULTS: Among the 5 patients (3 male …
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