Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2011 1
2016 1
2017 1
2018 2
2019 1
2020 2
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Infantile liver failure syndrome 3"
Page 1
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Staufner C, et al. Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25. Genet Med. 2020. PMID: 31761904 Free article.
Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: beta-propeller (combined phenotype), …
Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regar …
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, …
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
BACKGROUND: The clinical picture of pediatric intestinal failure has changed over the past 15 years, while effectiveness evolving treatment options remains unclear. ...The primary outcome was disease-specific mortality from liver failure and sepsis. Se …
BACKGROUND: The clinical picture of pediatric intestinal failure has changed over the past 15 years, while effectiveness evolv …
A Case of Consumptive Hypothyroidism in a 1-Month-Old Boy with Diffuse Infantile Hepatic Hemangiomas.
Kim YH, Lee YA, Shin CH, Hong KT, Kim GB, Ko JS, Lee YJ. Kim YH, et al. J Korean Med Sci. 2020 Jun 8;35(22):e180. doi: 10.3346/jkms.2020.35.e180. J Korean Med Sci. 2020. PMID: 32508067 Free PMC article.
Consumptive hypothyroidism is a rare paraneoplastic syndrome characterized by excessive inactivation of the thyroid hormones due to increased type 3 iodothyronine deiodinase activity of tumors. We report the case of severe consumptive hypothyroidism in a 1-month-old …
Consumptive hypothyroidism is a rare paraneoplastic syndrome characterized by excessive inactivation of the thyroid hormones due to i …
Use of an omega-3 fatty acid-based emulsion in the treatment of parenteral nutrition-induced cholestasis in patients with microvillous inclusion disease.
Fuchs J, Fallon EM, Gura KM, Puder M. Fuchs J, et al. J Pediatr Surg. 2011 Dec;46(12):2376-82. doi: 10.1016/j.jpedsurg.2011.09.061. J Pediatr Surg. 2011. PMID: 22152886 Review.
Microvillous inclusion disease is a congenital intestinal epithelial cell disorder leading to lifelong intestinal failure. In this report, we discuss the use of a fish oil-based lipid emulsion in the treatment of 3 patients with microvillous inclusion disease who de …
Microvillous inclusion disease is a congenital intestinal epithelial cell disorder leading to lifelong intestinal failure. In this re …
Intestinal transplantation in children: preliminary experience in Paris.
Goulet O, Jan D, Lacaille F, Colomb V, Michel JL, Damotte D, Jouvet P, Brousse N, Faure C, Cézard JP, Sarnacki S, Peuchmaur M, Hubert P, Ricour C, Révillon Y. Goulet O, et al. JPEN J Parenter Enteral Nutr. 1999 Sep-Oct;23(5 Suppl):S121-5. doi: 10.1177/014860719902300530. JPEN J Parenter Enteral Nutr. 1999. PMID: 10483912
Current follow-up ranges from 6 to 54 months. Five patients died (3 SBTx) within the first 2 months. Acute liver rejection occurred in 5 patients during the first 2 months. Sixteen episodes of intestinal rejection during the first 3 months in 11 patients (8 i …
Current follow-up ranges from 6 to 54 months. Five patients died (3 SBTx) within the first 2 months. Acute liver rejection occ …
Use of antiviral medications in drug reaction with eosinophilia and systemic symptoms (DRESS): A case of infantile DRESS.
Chow ML, Kim D, Kamath S, Peng D, Luu M. Chow ML, et al. Pediatr Dermatol. 2018 Mar;35(2):e114-e116. doi: 10.1111/pde.13408. Epub 2018 Jan 15. Pediatr Dermatol. 2018. PMID: 29334124
A 3-month-old girl with Sturge-Weber syndrome presented with a morbilliform rash, eosinophilia, and fulminant liver failure to our tertiary pediatric hospital. She was diagnosed with drug reaction with eosinophilia and systemic symptoms complicated by …
A 3-month-old girl with Sturge-Weber syndrome presented with a morbilliform rash, eosinophilia, and fulminant liver …
Resolution of Consumptive Hypothyroidism Secondary to Infantile Hepatic Hemangiomatosis with a Combination of Propranolol and Levothyroxine.
Campbell V, Beckett R, Abid N, Hoey S. Campbell V, et al. J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):294-298. doi: 10.4274/jcrpe.4865. Epub 2018 Feb 28. J Clin Res Pediatr Endocrinol. 2018. PMID: 29537380 Free PMC article.
Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype can, in severe cases, be associated with hepatic and cardiac failure, compartment syndrome and consumptive hypothyroidism. ...We report an interesting case of a female infant who present …
Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype can, in severe cases, be associated with hepatic and cardiac …