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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]