caa a22 4500 467932492 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0226-y doi (NATIONALLICENCE)springer-10.1007/s10545-006-0226-y Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries [Elektronische Daten] [H. Ishii, T. Takahashi, M. Toyono, M. Tamura, K. Harada, M. Yoshida, Y. Nishikawa, K. Enomoto, G. Takada] Summary: Two sisters with type B Niemann-Pick disease (genotype: S436R/S436R) showed cardiac dysfunctions, not secondary to pulmonary disease, at the beginning of the third decade. In the younger sister, myocardial dysfunction was refractory to treatment, resulting in death. At autopsy, the distal branches of the coronary arteries showed narrowing of the arterial lumina due to swelling of the medial and intimal smooth-muscle cells. This is the first report describing characteristic findings of coronary arteries in type B Niemann-Pick disease. SSIEM and Springer, 2006 Ishii H. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut Takahashi T. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut Toyono M. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut Tamura M. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut Harada K. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut Yoshida M. Department of First Pathology, Akita University School of Medicine, Akita, Japan aut Nishikawa Y. Department of First Pathology, Akita University School of Medicine, Akita, Japan aut Enomoto K. Department of First Pathology, Akita University School of Medicine, Akita, Japan aut Takada G. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 232-234 0141-8955 29:1<232 2006 29 10545 https://doi.org/10.1007/s10545-006-0226-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0226-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ishii H. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut NATIONALLICENCE 700 1- Takahashi T. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut NATIONALLICENCE 700 1- Toyono M. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut NATIONALLICENCE 700 1- Tamura M. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut NATIONALLICENCE 700 1- Harada K. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut NATIONALLICENCE 700 1- Yoshida M. Department of First Pathology, Akita University School of Medicine, Akita, Japan aut NATIONALLICENCE 700 1- Nishikawa Y. Department of First Pathology, Akita University School of Medicine, Akita, Japan aut NATIONALLICENCE 700 1- Enomoto K. Department of First Pathology, Akita University School of Medicine, Akita, Japan aut NATIONALLICENCE 700 1- Takada G. Department of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, 010-8543, Akita, Japan aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 232-234 0141-8955 29:1<232 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer