-
1
-
-
0003720078
-
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th ed. New York NY, McGraw-Hill;
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York (NY): McGraw-Hill; 2001.
-
(2001)
The metabolic and molecular bases of inherited disease
-
-
-
2
-
-
36049038494
-
Newborn screening for Pompe disease: Synthesis of the evidence and development of screening recommendations
-
Kemper AR, Hwu W-L, Lloyd-Puryear M, Kishnani PS. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics 2007;120:e1327-e34.
-
(2007)
Pediatrics
, vol.120
-
-
Kemper, A.R.1
Hwu, W.-L.2
Lloyd-Puryear, M.3
Kishnani, P.S.4
-
3
-
-
4644273798
-
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
-
Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50:1785-96.
-
(2004)
Clin Chem
, vol.50
, pp. 1785-1796
-
-
Li, Y.1
Scott, C.R.2
Chamoles, N.A.3
Ghavami, A.4
Pinto, B.M.5
Turecek, F.6
Gelb, M.H.7
-
4
-
-
0001745899
-
Niemann-Pick disease types A and B: Sphingomyelinase deficiencies
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th ed. New York NY, McGraw-Hill;
-
Schuchman EH, Desnick RJ. Niemann-Pick disease types A and B: sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York (NY): McGraw-Hill; 2000:3589-610.
-
(2000)
The metabolic and molecular bases of inherited disease
, pp. 3589-3610
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
5
-
-
0036629206
-
A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism
-
He X, Chen F, McGovern MM, Schuchman EH. A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism. Anal Biochem 2002;306:115-23.
-
(2002)
Anal Biochem
, vol.306
, pp. 115-123
-
-
He, X.1
Chen, F.2
McGovern, M.M.3
Schuchman, E.H.4
-
6
-
-
0035876022
-
An enzymatic assay for quantifying sphingomyelin in tissue and plasma from humans and mice with Niemann-Pick disease
-
He X, Chen F, Gatt S, Schuchman EH. An enzymatic assay for quantifying sphingomyelin in tissue and plasma from humans and mice with Niemann-Pick disease. Anal Biochem 2001;293:204-11.
-
(2001)
Anal Biochem
, vol.293
, pp. 204-211
-
-
He, X.1
Chen, F.2
Gatt, S.3
Schuchman, E.H.4
-
7
-
-
4143095952
-
Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper
-
Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta. 2004;347:97-102.
-
(2004)
Clin Chim Acta
, vol.347
, pp. 97-102
-
-
Chamoles, N.A.1
Niizawa, G.2
Blanco, M.3
Gaggioli, D.4
Casentini, C.5
-
8
-
-
33947576374
-
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots
-
Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Deeksha B, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab 2007;90:449-52.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 449-452
-
-
Kallwass, H.1
Carr, C.2
Gerrein, J.3
Titlow, M.4
Pomponio, R.5
Deeksha, B.6
-
9
-
-
33745605564
-
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alphaglucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease
-
Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, et al. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alphaglucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med 2006;8:302-6.
-
(2006)
Genet Med
, vol.8
, pp. 302-306
-
-
Zhang, H.1
Kallwass, H.2
Young, S.P.3
Carr, C.4
Dai, J.5
Kishnani, P.S.6
Millington, D.S.7
|