These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 31230978)

  • 81. New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).
    Gómez-Nájera M; Barajas-Medina H; Gallegos-Rivas MC; Mendez-Sashida P; Goss KA; Sims KB; Tripuraneni R; Valles-Ayoub Y
    J Pediatr Gastroenterol Nutr; 2015 Mar; 60(3):e22-4. PubMed ID: 24048164
    [No Abstract]   [Full Text] [Related]  

  • 82. Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.
    Draijer LG; Bosch AM; Wiegman A; Sjouke B; Benninga MA; Koot BGP
    Atherosclerosis; 2018 Nov; 278():174-179. PubMed ID: 30286343
    [TBL] [Abstract][Full Text] [Related]  

  • 83. Genomic organization of the human lysosomal acid lipase gene (LIPA).
    Aslanidis C; Klima H; Lackner KJ; Schmitz G
    Genomics; 1994 Mar; 20(2):329-31. PubMed ID: 8020990
    [TBL] [Abstract][Full Text] [Related]  

  • 84. A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.
    Fujiyama J; Sakuraba H; Kuriyama M; Fujita T; Nagata K; Nakagawa H; Osame M
    Hum Mutat; 1996; 8(4):377-80. PubMed ID: 8956047
    [No Abstract]   [Full Text] [Related]  

  • 85. Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children.
    Freudenberg F; Bufler P; Ensenauer R; Lohse P; Koletzko S
    Z Gastroenterol; 2013 Oct; 51(10):1184-7. PubMed ID: 24122380
    [TBL] [Abstract][Full Text] [Related]  

  • 86. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI; Kroos MA; Reuser AJ; Hatcher E; Akhtar M; McCready ME; Tarnopolsky MA
    Gene; 2014 Mar; 537(1):41-5. PubMed ID: 24384324
    [TBL] [Abstract][Full Text] [Related]  

  • 87. Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency.
    Frampton JE
    Am J Cardiovasc Drugs; 2016 Dec; 16(6):461-468. PubMed ID: 27878737
    [TBL] [Abstract][Full Text] [Related]  

  • 88. The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency.
    Erwin AL
    Therap Adv Gastroenterol; 2017 Jul; 10(7):553-562. PubMed ID: 28804516
    [TBL] [Abstract][Full Text] [Related]  

  • 89. Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.
    Camarena C; Aldamiz-Echevarria LJ; Polo B; Barba Romero MA; García I; Cebolla JJ; Ros E
    Med Clin (Barc); 2017 May; 148(9):429.e1-429.e10. PubMed ID: 28285817
    [TBL] [Abstract][Full Text] [Related]  

  • 90. Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency.
    Paton DM
    Drugs Today (Barc); 2016 May; 52(5):287-93. PubMed ID: 27376161
    [TBL] [Abstract][Full Text] [Related]  

  • 91. [Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)].
    Tanaka A
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):427-30. PubMed ID: 9645100
    [No Abstract]   [Full Text] [Related]  

  • 92. Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.
    Hernández-Orozco AA; Melendez-Aranda L; Mendoza-Ruvalcaba SDC; Perea-Díaz FJ; Cebolla JJ; Giraldo P; Brambila-Tapia AJL; García-Ortíz JE
    J Clin Lab Anal; 2024 Jul; 38(13-14):e25083. PubMed ID: 39105399
    [TBL] [Abstract][Full Text] [Related]  

  • 93. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
    Jones SA; Valayannopoulos V; Schneider E; Eckert S; Banikazemi M; Bialer M; Cederbaum S; Chan A; Dhawan A; Di Rocco M; Domm J; Enns GM; Finegold D; Gargus JJ; Guardamagna O; Hendriksz C; Mahmoud IG; Raiman J; Selim LA; Whitley CB; Zaki O; Quinn AG
    Genet Med; 2016 May; 18(5):452-8. PubMed ID: 26312827
    [TBL] [Abstract][Full Text] [Related]  

  • 94. Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
    Redonnet-Vernhet I; Chatelut M; Basile JP; Salvayre R; Levade T
    Biochem Mol Med; 1997 Oct; 62(1):42-9. PubMed ID: 9367797
    [TBL] [Abstract][Full Text] [Related]  

  • 95. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
    Reiner Ž; Guardamagna O; Nair D; Soran H; Hovingh K; Bertolini S; Jones S; Ćorić M; Calandra S; Hamilton J; Eagleton T; Ros E
    Atherosclerosis; 2014 Jul; 235(1):21-30. PubMed ID: 24792990
    [TBL] [Abstract][Full Text] [Related]  

  • 96. A Rare Image of Liver Steatosis - Acid Lipase Lysosomal Deficiency.
    Calian I; Rusu I; Sabo CM; Ciobanu L
    J Gastrointestin Liver Dis; 2020 Mar; 29(1):5. PubMed ID: 32176755
    [No Abstract]   [Full Text] [Related]  

  • 97. Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease.
    Tadiboyina VT; Liu DM; Miskie BA; Wang J; Hegele RA
    Lipids Health Dis; 2005 Oct; 4():26. PubMed ID: 16255772
    [TBL] [Abstract][Full Text] [Related]  

  • 98. Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?
    Baratta F; Pastori D; Polimeni L; Tozzi G; Violi F; Angelico F; Del Ben M
    Int J Mol Sci; 2015 Nov; 16(12):28014-21. PubMed ID: 26602919
    [TBL] [Abstract][Full Text] [Related]  

  • 99. A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.
    Seedorf U; Wiebusch H; Muntoni S; Christensen NC; Skovby F; Nickel V; Roskos M; Funke H; Ose L; Assmann G
    Arterioscler Thromb Vasc Biol; 1995 Jun; 15(6):773-8. PubMed ID: 7773732
    [TBL] [Abstract][Full Text] [Related]  

  • 100. Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
    Otsuka H; Sasai H; Nakama M; Aoyama Y; Abdelkreem E; Ohnishi H; Konstantopoulou V; Sass JO; Fukao T
    Mol Med Rep; 2016 Nov; 14(5):4906-4910. PubMed ID: 27748876
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.