Hereditary Neuropathy With Liability To Pressure Palsy
What's New
Last Posted: Jun 04, 2021
- Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy.
Nagels Klaus et al. Journal of neuromuscular diseases 2021 - Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
Wang Rui, et al. Clinica chimica acta; international journal of clinical chemistry 2015 10 - High frequency of SH3TC2 mutations in Czech HMSN I patients.
Laššuthová P, et al. Clinical genetics 2011 10 (4) 334-45 - Hereditary neuropathy with liability to pressure palsy
From NCATS Genetic and Rare Diseases Information Center - Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese.
Chen Shyue-Ru, et al. Clinical neurology and neurosurgery 2008 5 (5) 466-71
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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