BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 35658357)

  • 1. [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; 60(6):527-532. PubMed ID: 35658357
    [No Abstract]   [Full Text] [Related]  

  • 2. Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
    Lepe-Balsalobre E; Santotoribio JD; Nuñez-Vazquez R; García-Morillo S; Jiménez-Arriscado P; Hernández-Arévalo P; Delarosa-Rodríguez R; Guerrero JM; Macher HC
    Clin Chem Lab Med; 2020 Jun; 58(12):2017-2024. PubMed ID: 32589593
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 16(1):519. PubMed ID: 34930372
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
    Sheth J; Pancholi D; Mistri M; Nath P; Ankleshwaria C; Bhavsar R; Puri R; Phadke S; Sheth F
    BMC Med Genet; 2018 Oct; 19(1):178. PubMed ID: 30285649
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].
    Zhang TB; Wen XL; Zhang XL; Yan JR; Hao GP; Yang LH; Zhang RJ
    Zhonghua Xue Ye Xue Za Zhi; 2024 Jan; 45(1):82-85. PubMed ID: 38527843
    [TBL] [Abstract][Full Text] [Related]  

  • 6. High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.
    Huang Y; Jia X; Tang C; Liu S; Sheng H; Zhao X; Zeng C; Liu L
    Clin Chim Acta; 2020 Jul; 506():22-27. PubMed ID: 32165122
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
    Grigorescu-Sido P; Drugan C; Alkhzouz C; Zimmermann A; Coldea C; Denes C; Grigorescu MD; Cret V; Bucerzan S
    Eur J Intern Med; 2010 Apr; 21(2):104-13. PubMed ID: 20206881
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY; Zhang W; Shi HP; Zay A; Campbell T; Tang N; Ferreira P
    Blood Cells Mol Dis; 2007; 38(3):287-93. PubMed ID: 17196853
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
    Fairley C; Zimran A; Phillips M; Cizmarik M; Yee J; Weinreb N; Packman S
    J Inherit Metab Dis; 2008 Dec; 31(6):738-44. PubMed ID: 18979180
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical Characteristics and GBA Gene Mutation Analysis of Gaucher Disease Type I.
    Zhang X; Wu Y; Wang L; Wu Q; Liu Q; Li R
    Clin Lab; 2023 Apr; 69(4):. PubMed ID: 37057944
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis.
    Kaplan P; Andersson HC; Kacena KA; Yee JD
    Arch Pediatr Adolesc Med; 2006 Jun; 160(6):603-8. PubMed ID: 16754822
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A retrospective study on enzyme replacement therapy in patients with Gaucher disease].
    Duan YL; Zhang YH; Zang Y; Shi HP; Zhang WM; Hu YM
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):653-6. PubMed ID: 17217655
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 63(6):717-721. PubMed ID: 29602947
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 191(4):1038-1043. PubMed ID: 36637080
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and molecular characteristics of Japanese Gaucher disease.
    Eto Y; Ida H
    Neurochem Res; 1999 Feb; 24(2):207-11. PubMed ID: 9972866
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 40(10):876-883. PubMed ID: 29934114
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotype variations in Gaucher disease.
    Mistry P; Germain DP
    Rev Med Interne; 2006 Mar; 27 Suppl 1():S3-10. PubMed ID: 16644399
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
    Grabowski GA; Andria G; Baldellou A; Campbell PE; Charrow J; Cohen IJ; Harris CM; Kaplan P; Mengel E; Pocovi M; Vellodi A
    Eur J Pediatr; 2004 Feb; 163(2):58-66. PubMed ID: 14677061
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease.
    Drelichman G; Ponce E; Basack N; Freigeiro D; Aversa L; Graciela E; Kohan R
    J Pediatr; 2007 Aug; 151(2):197-201. PubMed ID: 17643778
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients.
    El-Beshlawy A; Ragab L; Youssry I; Yakout K; El-Kiki H; Eid K; Mansour IM; Abd El-Hamid S; Yang M; Mistry PK
    J Inherit Metab Dis; 2006 Feb; 29(1):92-8. PubMed ID: 16601874
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.