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5 in total

1. Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation.

Authors: H Sogawa; K Horino; F Nakamura; T Kudoh; K Oyanagi; T Yamanouchi; R Minami; T Nakao; A Watanabe; Y Matsuura
Journal: Eur J Pediatr Date: 1978-07-19 Impact factor: 3.183

2. Rare variant of lipid storage disorders.

Authors: P Saidi; S P Azizi; R Sarlati; N Sayar
Journal: Blood Date: 1970-04 Impact factor: 22.113

3. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

Authors: H Pavlů-Pereira; B Asfaw; H Poupctová; J Ledvinová; J Sikora; M T Vanier; K Sandhoff; J Zeman; Z Novotná; D Chudoba; M Elleder
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

4. Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings.

Authors: M Elleder; J Cihula
Journal: Eur J Pediatr Date: 1983-09 Impact factor: 3.183

5. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

Authors: Violeta Mihaylova; Janina Hantke; Ivanka Sinigerska; Silvia Cherninkova; Margarita Raicheva; Sonja Bouwer; Radka Tincheva; Djako Khuyomdziev; Jaume Bertranpetit; David Chandler; Dora Angelicheva; Ivo Kremensky; Pavel Seeman; Ivailo Tournev; Luba Kalaydjieva
Journal: Brain Date: 2007-03-14 Impact factor: 13.501

5 in total