Results 171 to 180 of about 3,802,908 (215)
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1996
There are four types of Niemann—Pick disease — A,B, C and D, which all have an accumulation of sphingomyelin in various tissues of the body as the basic defect. This accumulation is due to a deficiency of the enzyme, sphingomyelinase, which normally breaks down this lipid substance.
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There are four types of Niemann—Pick disease — A,B, C and D, which all have an accumulation of sphingomyelin in various tissues of the body as the basic defect. This accumulation is due to a deficiency of the enzyme, sphingomyelinase, which normally breaks down this lipid substance.
openaire +1 more source
Gene Therapy in a Mouse Model of Niemann–Pick Disease Type C1
Human Gene Therapy, 2021Tatsushi Onaka +2 more
exaly
Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B
Journal of Clinical Medicine, 2022Seyed Javad Sayedi +2 more
exaly
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
International Journal of Molecular Sciences, 2020Paul Gissén +2 more
exaly
Reticuloendotheliosis: Niemann-Pick disease
The Journal of Pediatrics, 1968openaire +2 more sources
Niemann‐Pick disease in a fœtus
The Journal of Pathology and Bacteriology, 1953openaire +2 more sources
Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale
Journal of the Neurological Sciences, 2006Mercedes Pineda +2 more
exaly