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 *

486 related articles for article (PubMed ID: 29122469)

  • 1. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
    Mori M; Haskell G; Kazi Z; Zhu X; DeArmey SM; Goldstein JL; Bali D; Rehder C; Cirulli ET; Kishnani PS
    Mol Genet Metab; 2017 Dec; 122(4):189-197. PubMed ID: 29122469
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
    Sniderman King L; Pan Y; Nallamilli BRR; Hegde M; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R
    Mol Genet Metab; 2023 May; 139(1):107565. PubMed ID: 37087815
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
    Johnson K; Töpf A; Bertoli M; Phillips L; Claeys KG; Stojanovic VR; Perić S; Hahn A; Maddison P; Akay E; Bastian AE; Łusakowska A; Kostera-Pruszczyk A; Lek M; Xu L; MacArthur DG; Straub V
    Orphanet J Rare Dis; 2017 Nov; 12(1):173. PubMed ID: 29149851
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
    Savarese M; Torella A; Musumeci O; Angelini C; Astrea G; Bello L; Bruno C; Comi GP; Di Fruscio G; Piluso G; Di Iorio G; Ergoli M; Esposito G; Fanin M; Farina O; Fiorillo C; Garofalo A; Giugliano T; Magri F; Minetti C; Moggio M; Passamano L; Pegoraro E; Picillo E; Sampaolo S; Santorelli FM; Semplicini C; Udd B; Toscano A; Politano L; Nigro V
    Neuromuscul Disord; 2018 Jul; 28(7):586-591. PubMed ID: 29880332
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N; Lukacs Z; Vinge L; Madsen KL; Husu E; Hansen RS; Duno M; Andersen H; Laub M; Vissing J
    Mol Genet Metab; 2013 Nov; 110(3):287-9. PubMed ID: 24011652
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L; Wattanasirichaigoon D; Tim-Aroon T; Rojnueangnit K; Noojaroen S; Khongkraparn A; Sawangareetrakul P; Ketudat-Cairns JR; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Svasti J
    BMC Med Genet; 2019 Sep; 20(1):156. PubMed ID: 31510962
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
    Chan MY; Jalil JA; Yakob Y; Wahab SAA; Ali EZ; Khalid MKNM; Leong HY; Chew HB; Sivabalakrishnan JB; Ngu LH
    Orphanet J Rare Dis; 2023 Aug; 18(1):231. PubMed ID: 37542277
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
    Musumeci O; Thieme A; Claeys KG; Wenninger S; Kley RA; Kuhn M; Lukacs Z; Deschauer M; Gaeta M; Toscano A; Gläser D; Schoser B
    Neuromuscul Disord; 2015 Sep; 25(9):719-24. PubMed ID: 26231297
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
    Momosaki K; Kido J; Yoshida S; Sugawara K; Miyamoto T; Inoue T; Okumiya T; Matsumoto S; Endo F; Hirose S; Nakamura K
    J Hum Genet; 2019 Aug; 64(8):741-755. PubMed ID: 31076647
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC; Kroos MA; de Vries JM; Hoogeveen-Westerveld M; Wijgerde MG; van Doorn PA; van der Ploeg AT; Reuser AJ
    Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
    Rairikar MV; Case LE; Bailey LA; Kazi ZB; Desai AK; Berrier KL; Coats J; Gandy R; Quinones R; Kishnani PS
    Mol Genet Metab; 2017 Nov; 122(3):99-107. PubMed ID: 28951071
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel autophagic vacuolar myopathies: Phenotype and genotype features.
    Napolitano F; Terracciano C; Bruno G; De Blasiis P; Lombardi L; Gialluisi A; Gianfrancesco F; De Giovanni D; Tummolo A; Di Iorio G; Limongelli G; Esposito T; Melone MAB; Sampaolo S
    Neuropathol Appl Neurobiol; 2021 Aug; 47(5):664-678. PubMed ID: 33393119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
    Oba-Shinjo SM; da Silva R; Andrade FG; Palmer RE; Pomponio RJ; Ciociola KM; S Carvalho M; Gutierrez PS; Porta G; Marrone CD; Munoz V; Grzesiuk AK; Llerena JC; Berditchevsky CR; Sobreira C; Horovitz D; Hatem TP; Frota ER; Pecchini R; Kouyoumdjian JA; Werneck L; Amado VM; Camelo JS; Mattaliano RJ; Marie SK
    J Neurol; 2009 Nov; 256(11):1881-90. PubMed ID: 19588081
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
    Chawla T; Preethish-Kumar V; Polavarapu K; Vengalil S; Bardhan M; Puri R; Verma J; Christopher R; Supriya M; Nashi S; Prasad C; Nadeesh B; Nalini A
    J Neuromuscul Dis; 2022; 9(2):261-273. PubMed ID: 34864681
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
    Herzog A; Hartung R; Reuser AJ; Hermanns P; Runz H; Karabul N; Gökce S; Pohlenz J; Kampmann C; Lampe C; Beck M; Mengel E
    Orphanet J Rare Dis; 2012 Jun; 7():35. PubMed ID: 22676651
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.
    Ullah A; Zubaida B; Cheema HA; Naeem M
    J Pediatr Endocrinol Metab; 2020 Apr; 33(4):553-556. PubMed ID: 32049654
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Broad variation in phenotypes for common GAA genotypes in Pompe disease.
    Niño MY; In't Groen SLM; de Faria DOS; Hoogeveen-Westerveld M; van den Hout HJMP; van der Ploeg AT; Bergsma AJ; Pijnappel WWMP
    Hum Mutat; 2021 Nov; 42(11):1461-1472. PubMed ID: 34405923
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
    Lorenzoni PJ; Kay CSK; Higashi NS; D'Almeida V; Werneck LC; Scola RH
    Arq Neuropsiquiatr; 2018 Apr; 76(4):247-251. PubMed ID: 29742245
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
    Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
    Tsai AC; Hung YW; Harding C; Koeller DM; Wang J; Wong LC
    Am J Med Genet A; 2017 Sep; 173(9):2500-2504. PubMed ID: 28657663
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.