156 related articles for article (PubMed ID: 34357340)
1. Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Saville JT; Fuller M
Metabolites; 2021 Jul; 11(7):. PubMed ID: 34357340
[TBL] [Abstract][Full Text] [Related]
2. Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V; Pijnappel PWWM; Burlina AP; In 't Groen SLM; Gueraldi D; Cazzorla C; Maines E; Polo G; Salviati L; Di Salvo G; Burlina AB
Mol Genet Metab Rep; 2022 Dec; 33():100929. PubMed ID: 36310651
[TBL] [Abstract][Full Text] [Related]
3. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
Chien YH; Goldstein JL; Hwu WL; Smith PB; Lee NC; Chiang SC; Tolun AA; Zhang H; Vaisnins AE; Millington DS; Kishnani PS; Young SP
JIMD Rep; 2015; 19():67-73. PubMed ID: 25681082
[TBL] [Abstract][Full Text] [Related]
4. The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.
Canbay E; Vural M; Kalkan Uçar S; Sezer ED; Karasoy H; Yüceyar AN; Çoker M; Sözmen EY
J Pediatr Endocrinol Metab; 2020 Mar; 33(3):391-395. PubMed ID: 32069240
[TBL] [Abstract][Full Text] [Related]
5. [GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].
Huang YL; Sheng HY; Jia XF; Su XY; Zhao XY; Xie T; Tang CF; Liu SC; Li XZ; Zhang W; Mei HF; Zeng CH; Liu L
Zhonghua Er Ke Za Zhi; 2021 Mar; 59(3):189-194. PubMed ID: 33657692
[No Abstract] [Full Text] [Related]
6. Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N; Huang J; Violante S; Orsini JJ; Caggana M; Hughes EE; Stevens C; DiAntonio L; Chieh Liao H; Hong X; Ghomashchi F; Babu Kumar A; Zhou H; Kornreich R; Wasserstein M; Gelb MH; Yu C
Clin Chem; 2017 Apr; 63(4):842-851. PubMed ID: 28196920
[TBL] [Abstract][Full Text] [Related]
7. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.
Chien YH; Tsai WH; Chang CL; Chiu PC; Chou YY; Tsai FJ; Wong SL; Lee NC; Hwu WL
Mol Genet Metab Rep; 2020 Jun; 23():100591. PubMed ID: 32373469
[TBL] [Abstract][Full Text] [Related]
8. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Fukuhara Y; Fuji N; Yamazaki N; Hirakiyama A; Kamioka T; Seo JH; Mashima R; Kosuga M; Okuyama T
Mol Genet Metab Rep; 2018 Mar; 14():3-9. PubMed ID: 29124014
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.
Chien YH; Hwu WL; Lee NC; Tsai FJ; Koeberl DD; Tsai WH; Chiu PC; Chang CL
Mol Genet Metab Rep; 2017 Jun; 11():31-35. PubMed ID: 28480166
[TBL] [Abstract][Full Text] [Related]
11. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
Yang CF; Liu HC; Hsu TR; Tsai FC; Chiang SF; Chiang CC; Ho HC; Lai CJ; Yang TF; Chuang SY; Lin CY; Niu DM
Am J Med Genet A; 2014 Jan; 164A(1):54-61. PubMed ID: 24243590
[TBL] [Abstract][Full Text] [Related]
12. Gene Therapy for Pompe Disease: The Time is now.
Colella P; Mingozzi F
Hum Gene Ther; 2019 Oct; 30(10):1245-1262. PubMed ID: 31298581
[TBL] [Abstract][Full Text] [Related]
13. Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C; Ahrens-Nicklas RC; Barch J; Cuddapah SR; DiBoscio BS; DiPerna JC; Gordon PL; Henderson N; Menello C; Luongo N; Ortiz D; Xiao R
Int J Neonatal Screen; 2020 Nov; 6(4):. PubMed ID: 33202836
[TBL] [Abstract][Full Text] [Related]
14. Progress and challenges of gene therapy for Pompe disease.
Ronzitti G; Collaud F; Laforet P; Mingozzi F
Ann Transl Med; 2019 Jul; 7(13):287. PubMed ID: 31392199
[TBL] [Abstract][Full Text] [Related]
15.
Malekkou A; Theodosiou A; Alexandrou A; Papaevripidou I; Sismani C; Jacobs EH; Ruijter GJG; Anastasiadou V; Ourani S; Athanasiou E; Drousiotou A; Grafakou O; Petrou PP
Mol Genet Metab Rep; 2023 Sep; 36():100997. PubMed ID: 37600231
[TBL] [Abstract][Full Text] [Related]
16. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
Young SP; Piraud M; Goldstein JL; Zhang H; Rehder C; Laforet P; Kishnani PS; Millington DS; Bashir MR; Bali DS
Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):50-8. PubMed ID: 22252961
[TBL] [Abstract][Full Text] [Related]
17. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.
El Haddad L; Khan M; Soufny R; Mummy D; Driehuys B; Mansour W; Kishnani PS; ElMallah MK
Ther Clin Risk Manag; 2023; 19():713-729. PubMed ID: 37680303
[TBL] [Abstract][Full Text] [Related]
18. The Clinical Management of Pompe Disease: A Pediatric Perspective.
Marques JS
Children (Basel); 2022 Sep; 9(9):. PubMed ID: 36138713
[TBL] [Abstract][Full Text] [Related]
19. Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Davids L; Sun Y; Moore RH; Lisi E; Wittenauer A; Wilcox WR; Ali N
Mol Genet Metab; 2021; 134(1-2):20-28. PubMed ID: 34602357
[TBL] [Abstract][Full Text] [Related]
20. Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.
Piraud M; Pettazzoni M; de Antonio M; Vianey-Saban C; Froissart R; Chabrol B; Young S; Laforêt P;
Mol Genet Metab Rep; 2020 Jun; 23():100583. PubMed ID: 32382504
[No Abstract] [Full Text] [Related]
[Next] [New Search]
