Title: Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
Journal: Neuropediatrics 20031201
588673-86-3 | 5-[(2,5-Dimethylphenoxy)methyl]-4-ethyl-4h-1,2,4-triazole-3-thiol | AA00EC2H | MFCD03943510
602306-29-6 | AZD 5438 | AA00ECA0 | MFCD11112135
64730-34-3 | 4-(7-METHYLIMIDAZO[1,2-A]PYRIDIN-2-YL)ANILINE | AA00ECE5 | MFCD08444349
586-22-1 | 3'-Fluoro-4'-methoxypropiophenone | AA00ECJV | MFCD01814881
60889-32-9 | Hexahydro-1h-furo[3,4-c]pyrrole | AA00ECOQ | MFCD14581351
603-41-8 | p,p'-(2-pyridylmethylene)bisphenol | AA00ECWM | MFCD00023496
60547-96-8 | 6,7-Dimethoxyquinazoline-2,4-diamine | AA00ED4O | MFCD02676573
6166-86-5 | PENTAMETHYLCYCLOPENTASILOXANE | AA00EDBQ | MFCD00053531
6036-76-6 | L-ERYTHRO-DIHYDROSPHINGOSINE | AA00EDN4 | MFCD00274349
64036-71-1 | 4,6-Dimethyl-benzothiazol-2-ylamine | AA00EDRO | MFCD00659246