Expanding the phenotype: Acid ceramidase deficiency...

Molecular Genetics and Metabolism 2020 / 02 Vol. 129; Iss. 2

Expanding the phenotype: Acid ceramidase deficiency presenting with features of SMA-PME and Farber disease

Mitchell, John, Etchart, Camilla, El Turk, Farah
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Volume:
129
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2019.11.285
Date:
February, 2020
File:
PDF, 330 KB
2020
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