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204 related items for PubMed ID: 34930372

  • 1. Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
    Phetthong T, Tim-Aroon T, Khongkraparn A, Noojarern S, Kuptanon C, Wichajarn K, Sathienkijkanchai A, Suphapeetiporn K, Charoenkwan P, Tantiworawit A, Noentong N, Wattanasirichaigoon D.
    Orphanet J Rare Dis; 2021 Dec 20; 16(1):519. PubMed ID: 34930372
    [Abstract] [Full Text] [Related]

  • 2. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
    El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK.
    Mol Genet Metab; 2017 Dec 20; 120(1-2):47-56. PubMed ID: 28040394
    [Abstract] [Full Text] [Related]

  • 3. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
    Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.
    Blood Cells Mol Dis; 2007 Dec 20; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 4. The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
    Venkatachari M, Chakraborty S, Correa ARE, Mishra P, Kocchar KP, Kabra M, Chakrabarty B, Kalaivani M, Sapra S, Mishra P, Gulati S, Gupta N.
    Am J Med Genet A; 2023 Apr 20; 191(4):1038-1043. PubMed ID: 36637080
    [Abstract] [Full Text] [Related]

  • 5. Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
    Kang L, Wang Y, Gao X, Qiu W, Ye J, Han L, Gu X, Zhang H.
    Brain Dev; 2018 Nov 20; 40(10):876-883. PubMed ID: 29934114
    [Abstract] [Full Text] [Related]

  • 6. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
    Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A.
    Eur J Med Genet; 2021 Nov 20; 64(11):104339. PubMed ID: 34500086
    [Abstract] [Full Text] [Related]

  • 7. A common and two novel GBA mutations in Thai patients with Gaucher disease.
    Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V.
    J Hum Genet; 2013 Sep 20; 58(9):594-9. PubMed ID: 23719189
    [Abstract] [Full Text] [Related]

  • 8. Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
    Ryan E, Nishimura S, Lopez G, Tayebi N, Sidransky E.
    Am J Med Genet A; 2024 Sep 20; 194(9):e63630. PubMed ID: 38647370
    [Abstract] [Full Text] [Related]

  • 9. A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
    Vernet Machado Bressan Wilke M, Iop GD, Faqueti L, Lemos da Silva LA, Kubaski F, Poswar FO, Michelin-Tirelli K, Randon D, Borelli WV, Giugliani R, Schwartz IVD.
    Int J Mol Sci; 2024 Mar 01; 25(5):. PubMed ID: 38474117
    [Abstract] [Full Text] [Related]

  • 10. High-risk screening for Gaucher disease in patients with neurological symptoms.
    Momosaki K, Kido J, Matsumoto S, Yoshida S, Takei A, Miyabayashi T, Sugawara K, Endo F, Nakamura K.
    J Hum Genet; 2018 Jun 01; 63(6):717-721. PubMed ID: 29602947
    [Abstract] [Full Text] [Related]

  • 11. Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.
    Narita A, Koto Y, Noto S, Okada M, Ono M, Baba T, Sagara R, Sakai N.
    Orphanet J Rare Dis; 2024 Jan 05; 19(1):11. PubMed ID: 38183145
    [Abstract] [Full Text] [Related]

  • 12. Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3.
    Høj A, Ørngreen MC, Naume MM, Lund AM.
    Mol Genet Metab; 2024 Aug 05; 142(4):108515. PubMed ID: 38909587
    [Abstract] [Full Text] [Related]

  • 13. Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
    Daykin EC, Ryan E, Sidransky E.
    Mol Genet Metab; 2021 Feb 05; 132(2):49-58. PubMed ID: 33483255
    [Abstract] [Full Text] [Related]

  • 14. The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
    Gleason AM, D'Souza A, Ryan E, Grochowsky AR, Carter CR, Goker-Alpan O, Lopez G, Tayebi N, Sidransky E.
    Am J Med Genet A; 2023 Jul 05; 191(7):1783-1791. PubMed ID: 37042183
    [Abstract] [Full Text] [Related]

  • 15. Ambroxol Chaperone Therapy for Gaucher Disease Type I-Associated Liver Cirrhosis and Portal Hypertension: A Case Report.
    Zhang P, Zheng MF, Cui SY, Zhang W, Gao RP.
    Endocr Metab Immune Disord Drug Targets; 2022 Jul 05; 22(6):658-662. PubMed ID: 34802413
    [Abstract] [Full Text] [Related]

  • 16. [Clinical phenotype and genotype of Gaucher disease in 14 children].
    Sun XY, Xue Y, Wang YP, Huang J, Lin RF, Kang MY, Fang YJ.
    Zhonghua Er Ke Za Zhi; 2022 Jun 02; 60(6):527-532. PubMed ID: 35658357
    [Abstract] [Full Text] [Related]

  • 17. Comprehensive and long-term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.
    Anurathapan U, Tim-Aroon T, Zhang W, Sanpote W, Wongrungsri S, Khunin N, Chutipongtanate S, Chirdkiatgumchai V, Ngiwsara L, Jaovisidha S, Khongkraparn A, Pakakasama S, Svasti J, Setchell KDR, Wattanasirichaigoon D, Hongeng S.
    Pediatr Blood Cancer; 2023 Mar 02; 70(3):e30149. PubMed ID: 36562549
    [Abstract] [Full Text] [Related]

  • 18. Gaucher disease and its treatment options.
    Bennett LL, Mohan D.
    Ann Pharmacother; 2013 Sep 02; 47(9):1182-93. PubMed ID: 24259734
    [Abstract] [Full Text] [Related]

  • 19. Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.
    Mozafari H, Tghikhani M, Rahimi Z, Vaisi Raygani A, Ansari S, Khatami S, Alaei MR, Saghiri R.
    Iran J Child Neurol; 2021 Sep 02; 15(3):139-166. PubMed ID: 34282371
    [Abstract] [Full Text] [Related]

  • 20. The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
    Kim YM, Choi JH, Kim GH, Sohn YB, Ko JM, Lee BH, Cheon CK, Lim HH, Heo SH, Yoo HW.
    Orphanet J Rare Dis; 2020 Nov 11; 15(1):318. PubMed ID: 33176831
    [Abstract] [Full Text] [Related]

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