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Publication : orphanet journal of rare diseases

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Academic Journal

A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy.

Authors : Zhao, Xin¹ (AUTHOR); Gong, Zhenxiang¹ (AUTHOR); Luo, Han¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 12/25/2024, Vol. 19 Issue 1, p1-9. 9p.

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Academic Journal

Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study.

Authors : Hsueh, Sung-Ju¹ (AUTHOR); Lin, Chin-Hsien² (AUTHOR); Lee, Ni-Chung³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 5/24/2024, Vol. 19 Issue 1, p1-7. 7p.

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Academic Journal

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.

Authors : Hesami, Omid^1,2 (AUTHOR); Ramezani, Mahtab^1,3 (AUTHOR); Ghasemi, Aida¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/12/2024, Vol. 19 Issue 1, p1-9. 9p.

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