Author:
Ortiz Damara,Lichter-Konecki Uta
Publisher
Springer Science and Business Media LLC
Reference57 articles.
1. Millington DS, Norwood DL, Kodo N, Roe CR, Inoue F. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem. 1989;180(2):331–9.
2. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8 Suppl 1:1S–252S.
3. Kishnani PS, Hwu W-L, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148(5):671–6. e2
4. Leslie N, Tinkle BT. Glycogen storage disease type II (Pompe Disease). In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al., editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [cited 2017 Apr 6]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1261/ .
5. Hamdan MA, Almalik MH, Mirghani HM. Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results. J Inherit Metab Dis. 2008;31(2):431–6.