scholarly journals A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy

2019 ◽  
Vol 58 (3) ◽  
pp. 437-440
Author(s):  
Ryo Sasaki ◽  
Yasuyuki Ohta ◽  
Yoshiaki Takahashi ◽  
Keiichiro Tsunoda ◽  
Koh Tadokoro ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Rare Case ◽  
Klinefelter Syndrome ◽  
Spastic Paraplegia

scholarly journals A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation

2015 ◽  
Vol 7 (4) ◽  
pp. 520 ◽  
Author(s):  
ShyamM Talreja ◽  
Indraneel Banerjee ◽  
SherSingh Yadav ◽  
Vinay Tomar
Keyword(s):  
Rare Case ◽  
Klinefelter Syndrome ◽  
Unusual Presentation

scholarly journals SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Archana Purushothaman ◽  
Jennifer Larsen
Keyword(s):  
Rare Case ◽  
Klinefelter Syndrome

A rare case in literature: Isochromosome Xq in Klinefelter syndrome

Andrologia ◽  
2019 ◽  
Vol 51 (5) ◽  
pp. e13253
Author(s):  
Levent Simsek ◽  
Ayse Gul Zamani ◽  
Hakan Hakkı Taskapu ◽  
Mahmut Selman Yildirim
Keyword(s):  
Rare Case ◽  
Klinefelter Syndrome

Complicated Hereditary Spastic Paraplegia with Peripheral Neuropathy, Optic Atrophy and Mental Retardation

2000 ◽  
Vol 31 (4) ◽  
pp. 214-217 ◽  
Author(s):  
Sahoko Miyama ◽  
Kiyoshi Arimoto ◽  
Satoshi Kimiya ◽  
Hideaki Tomi
Keyword(s):  
Mental Retardation ◽  
Peripheral Neuropathy ◽  
Optic Atrophy ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy

2015 ◽  
Vol 358 (1-2) ◽  
pp. 422-427 ◽  
Author(s):  
Eva López ◽  
Carlos Casasnovas ◽  
Javier Giménez ◽  
Raúl Santamaría ◽  
Jesús Mª. Terrazas ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Leber’s Disease with Spastic Paraplegia and Peripheral Neuropathy

1983 ◽  
Vol 22 (3) ◽  
pp. 181-185 ◽  
Author(s):  
Michel Pagès ◽  
Anne-Marie Pagès
Keyword(s):  
Peripheral Neuropathy ◽  
Spastic Paraplegia

Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy

2021 ◽  
Author(s):  
Xianling Wang ◽  
Xu‐Ying Li ◽  
Yueshan Piao ◽  
Guobin Yuan ◽  
Yicong Lin ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

2019 ◽  
Vol 266 (3) ◽  
pp. 735-744 ◽  
Author(s):  
Anders Toft ◽  
Steffen Birk ◽  
Martin Ballegaard ◽  
Morten Dunø ◽  
Lena E. Hjermind ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia
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