|
1
|
Hers HG: alpha-Glucosidase deficiency in
generalized glycogenstorage disease (Pompe's disease). Biochem J.
86:11–16. 1963.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Kishnani PS, Steiner RD, Bali D, Berger K,
Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, et
al: Pompe disease diagnosis and management guideline. Genet Med.
8:267–288. 2006.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Kishnani PS, Corzo D, Leslie ND, Gruskin
D, Van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, Bauer MS,
et al: Early treatment with alglucosidase alpha prolongs long-term
survival of infants with Pompe disease. Pediatr Res. 66:329–335.
2009.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Chakrapani A, Vellodi A, Robinson P, Jones
S and Wraith JE: Treatment of infantile Pompe disease with
alglucosidase alpha: The UK experience. J Inherit Metab Dis.
33:747–750. 2010.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Hahn A, Praetorius S, Karabul N, Dießel J,
Schmidt D, Motz R, Haase C, Baethmann M, Hennermann JB, Smitka M,
et al: Outcome of patients with classical infantile pompe disease
receiving enzyme replacement therapy in Germany. In: JIMD Reports.
Volume 20. Zschocke J, Baumgartner M, Morava E, Patterson M, Rahman
S and Peters V (eds). Springer, Berlin, Heidelberg, pp65-75,
2015.
|
|
6
|
Hahn A and Schänzer A: Long-term outcome
and unmet needs in infantile-onset Pompe disease. Ann Transl Med.
7(283)2019.PubMed/NCBI View Article : Google Scholar
|
|
7
|
World Health Organization (WHO): WHO child
growth standards: length/height-for-age, weight-for-age,
weight-for-length, weight-for-height and body mass index-for-age:
Methods and development. World Health Organization, 2006.
|
|
8
|
de Onis M, Onyango AW, Borghi E, Siyam A,
Nishida C and Siekmann J: Development of a WHO growth reference for
school-aged children and adolescents. Bull World Health Organ.
85:660–667. 2007.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Frankenburg WK, Dodds J, Archer P, Shapiro
H and Bresnick B: The denver II: A major revision and
restandardization of the denver developmental screening test.
Pediatrics. 89:91–97. 1992.PubMed/NCBI
|
|
10
|
Fatehi F, Ashrafi MR, Babaee M, Ansari B,
Beiraghi Toosi M, Boostani R, Eshraghi P, Fakharian A, Hadipour Z,
Haghi Ashtiani B, et al: Recommendations for infantile-onset and
late-onset pompe disease: An Iranian consensus. Front Neurol.
12(739931)2021.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Llerena Junior JC, Nascimento OJ, Oliveira
ASB, Dourado Junior ME, Marrone CD, Siqueira HH, Sobreira CF,
Dias-Tosta E and Werneck LC: Guidelines for the diagnosis,
treatment and clinical monitoring of patients with juvenile and
adult Pompe disease. Arq Neuropsiquiatr. 74:166–176.
2016.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Tarnopolsky MA and Nilsson MI: Nutrition
and exercise in Pompe disease. Ann Transl Med.
7(282)2019.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Galeotti A, De Rosa S, Uomo R,
Dionisi-Vici C, Deodato F, Taurisano R, Olivieri G and Festa P:
Orofacial features and pediatric dentistry in the long-term
management of infantile Pompe disease children. Orphanet J Rare
Dis. 15(329)2020.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Prater SN, Banugaria SG, DeArmey SM, Botha
EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP
and Kishnani PS: The emerging phenotype of long-term survivors with
infantile Pompe disease. Genet Med. 14:800–810. 2012.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Parini R, De Lorenzo P, Dardis A, Burlina
A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F,
Donati MA, et al: Long term clinical history of an Italian cohort
of infantile onset Pompe disease treated with enzyme replacement
therapy. Orphanet J Rare Dis. 13(32)2018.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Pfrimmer C, Smitka M, Muschol N, Husain
RA, Huemer M, Hennermann JB, Schuler R and Hahn A: Long-term
outcome of infantile onset pompe disease patients treated with
enzyme replacement therapy-data from a german-austrian cohort. J
Neuromuscul Dis. 11:167–177. 2024.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Broomfield A, Fletcher J, Davison J,
Finnegan N, Fenton M, Chikermane A, Beesley C, Harvey K, Cullen E,
Stewart C, et al: Response of 33 UK patients with infantile-onset
Pompe disease to enzyme replacement therapy. J Inherit Metab Dis.
39:261–271. 2016.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Benedetto L, Musumeci O, Giordano A,
Porcino M and Ingrassia M: Assessment of parental needs and quality
of life in children with a rare neuromuscular disease (Pompe
disease): A quantitative-qualitative study. Behav Sci (Basel).
13(956)2023.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Schoser B, Bilder DA, Dimmock D, Gupta D,
James ES and Prasad S: The humanistic burden of Pompe disease: are
there still unmet needs? A systematic review. BMC Neurol.
17(202)2017.PubMed/NCBI View Article : Google Scholar
|
