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A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations

2002; Oxford University Press; Volume: 147; Issue: 3 Linguagem: Inglês

10.1046/j.1365-2133.2002.04902.x

1365-2133

Kouichi Kimura, Kazuko C. Sato‐Matsumura, Hideki Nakamura, Yuya Onodera, Ken Morita, N. Enami, T. Shougase, Tomohiro Ohsaki, Masaru Kato, Tohru Takahashi, Yube Yamaguchi, Hiroshi Shimizu,

Trypanosoma species research and implications

Journal Article A novel A97P amino acid substitution in α‐galactosidase A leads to a classical Fabry disease with cardiac manifestations Get access K. Kimura, K. Kimura *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Kumiko Kimura, MD E‐mail: kmatsum@med.hokudai.ac.jp Search for other works by this author on: Oxford Academic Google Scholar K.C. Sato‐Matsumura, K.C. Sato‐Matsumura *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar H. Nakamura, H. Nakamura *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar Y. Onodera, Y. Onodera *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar K. Morita, K. Morita *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar N. Enami, N. Enami *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar T. Shougase, T. Shougase *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar T. Ohsaki, T. Ohsaki *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar M. Kato, M. Kato *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar T. Takahashi, T. Takahashi *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar ... Show more Y. Yamaguchi, Y. Yamaguchi *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar H. Shimizu H. Shimizu *Department of Dermatology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita‐ku, Sapporo, 060–8638, Japan Departments of †Dermatology, ‡Medicine, §Urology, ¶Cardiovascular Medicine, **Otolaryngology, ††Ophthalmology and ‡‡Pathology, Nikko Memorial Hospital, Muroran, Japan §§Department of Pathology, Jikei University Kashiwa Hospital, Kashiwa, Japan Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 147, Issue 3, 1 September 2002, Pages 545–548, https://doi.org/10.1046/j.1365-2133.2002.04902.x Published: 01 September 2002 Article history Accepted: 04 March 2002 Published: 01 September 2002