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 *

385 related articles for article (PubMed ID: 28799099)

  • 21. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
    Wu S; Hou M; Zhang Y; Song J; Guo Y; Liu P; Liu Y; Yi L; Pan X; We W; Chen Z
    J Mol Neurosci; 2021 Feb; 71(2):245-251. PubMed ID: 32617873
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].
    Wu R; Tang W; Li D; Tang D; Li Y; Luo X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jan; 37(1):12-16. PubMed ID: 31922587
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
    Wu THY; Brown HA; Church HJ; Kershaw CJ; Hutton R; Egerton C; Cooper J; Tylee K; Cohen RN; Gokhale D; Ram D; Morton G; Henderson M; Bigger BW; Jones SA
    Mol Genet Metab; 2024 May; 142(1):108349. PubMed ID: 38458124
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
    Santhanakumaran V; Groeschel S; Harzer K; Kehrer C; Elgün S; Beck-Wödl S; Hengel H; Schöls L; Haack TB; Krägeloh-Mann I; Laugwitz L
    Mol Genet Metab; 2022 Nov; 137(3):273-282. PubMed ID: 36240581
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
    Olkhovich NV; Takamura N; Pichkur NA; Gorovenko NG; Aoyagi K; Yamashita S
    Mol Genet Metab; 2003 Nov; 80(3):360-3. PubMed ID: 14680985
    [TBL] [Abstract][Full Text] [Related]  

  • 26. High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
    Kreysing J; Bohne W; Bösenberg C; Marchesini S; Turpin JC; Baumann N; von Figura K; Gieselmann V
    Am J Hum Genet; 1993 Aug; 53(2):339-46. PubMed ID: 8101038
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.
    Aslan M; Kirik S; Özgör B; Güngör S
    J Pediatr Endocrinol Metab; 2018 Sep; 31(9):1047-1051. PubMed ID: 30052522
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
    Zlotogora J; Bach G; Bösenberg C; Barak Y; von Figura K; Gieselmann V
    Hum Mutat; 1995; 5(2):137-43. PubMed ID: 7749412
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
    Bertelli M; Gallo S; Buda A; Cecchin S; Fabbri A; Lapucci C; Andrighetto G; Sidoti V; Lorusso L; Pandolfo M
    J Clin Neurosci; 2006 May; 13(4):443-8. PubMed ID: 16678723
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.
    Han M; Jun SH; Lee YJ; Eun BL; Lee SJ; Seong MW; Park SS; Song SH; Park HD; Song J
    Ann Lab Med; 2015 Jul; 35(4):458-62. PubMed ID: 26131420
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.
    Ługowska A; Szymańska K; Kmiec T; Tarczyńska I; Czartoryska B; Tylki-Szymańska A; Jurkiewicz E
    J Appl Genet; 2005; 46(3):337-9. PubMed ID: 16110195
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
    Ługowska A; Wlodarski P; Płoski R; Mierzewska H; Dudzińska M; Matheisel A; Swietochowska H; Tylki-Szymańska A
    Clin Genet; 2009 Jan; 75(1):57-64. PubMed ID: 19021637
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
    Mahdieh N; Sharifi A; Rabbani A; Ashrafi M; Tavasoli AR; Badv RS; Bonkowsky JL; Rabbani B
    Clin Neurol Neurosurg; 2021 Feb; 201():106448. PubMed ID: 33385934
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.
    Mir YR; Agrahari AK; Hassan A; Choudhary A; Asthana S; Taneja AK; Nawaz S; Ilyas M; Scotti C; Kuchay RAH
    Mol Biol Rep; 2023 Dec; 51(1):30. PubMed ID: 38153581
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.
    Ben Issa A; Kamoun F; Bouchaala W; Charfi Triki C; Fakhfakh F
    Int J Dev Neurosci; 2024 Feb; 84(1):35-46. PubMed ID: 37848385
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Genetic analysis of a patient with late infantile metachromatic leukodystrophy].
    Yang K; Zhang Y; Lou G; Qi N; Wang L; Zhu H; Zhang B; Wang D; Liao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):153-155. PubMed ID: 32034743
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
    Hettiarachchi D; Dissanayake VHW
    BMC Res Notes; 2019 Nov; 12(1):726. PubMed ID: 31694723
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation.
    Ataei Z; Nouri Z; Tavakoli F; Pourreza MR; Narrei S; Tabatabaiefar MA
    PLoS One; 2023; 18(2):e0282304. PubMed ID: 36848337
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.
    Lissens W; Vervoort R; Van Regemorter N; Van Bogaert P; Freund M; Verellen-Dumoulin C; Seneca S; Liebaers I
    J Inherit Metab Dis; 1996; 19(6):782-6. PubMed ID: 8982952
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
    Shukla P; Vasisht S; Srivastava R; Gupta N; Ghosh M; Kumar M; Sharma R; Gupta AK; Kaur P; Kamate M; Gulati S; Kalra V; Phadke S; Singhi P; Dherai AJ; Kabra M
    J Neurol Sci; 2011 Feb; 301(1-2):38-45. PubMed ID: 21167507
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.