نتائج البحث

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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High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

• Authors : Pablo, M. J.^1,2 (AUTHOR); Pamplona, P.^1,3 (AUTHOR); Haddad, M.^1,3 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/30/2021, Vol. 16 Issue 1, p1-8. 8p.

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Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!

• Authors : Rota E; Neurology Unit, ASL Alessandria (AL), Via E. Raggio 12, 15067, Novi Ligure, AL, Italy. .; Grandis M

Subjects: Fabry Disease*/Fabry Disease*/Fabry Disease*/complications ; Fabry Disease*/Fabry Disease*/Fabry Disease*/diagnosis ; Fabry Disease*/Fabry Disease*/Fabry Disease*/genetics

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 20; Vol. 15 (1), pp. 216. Date of Electronic Publication: 2020 Aug 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.

• Authors : Horie, Yutaka; Yasuoka, Yuka; Adachi, Tomohide

Subjects: ACUTE intermittent porphyria; DATABASES; PORPHYRIAJAPAN

• Source: Orphanet Journal of Rare Diseases; 12/8/2023, Vol. 18 Issue 1, p1-8, 8p

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The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

• Authors : Sánchez, Rosario¹ (AUTHOR) ; Ripoll-Vera, Tomás² (AUTHOR); López-Mendoza, Manuel³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/9/2023, Vol. 18 Issue 1, p1-10. 10p.

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White matter is increased in the brains of adults with neurofibromatosis 1.

• Authors : Wang, Su; Friedman, Jan M.; Suppa, Per

Subjects: NEUROFIBROMATOSIS 1; NEUROFIBROMATOSIS 2; CORPUS callosum

• Source: Orphanet Journal of Rare Diseases; 3/5/2022, Vol. 17 Issue 1, p1-11, 11p

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Small fiber neuropathy for assessment of disease severity in amyotrophic lateral sclerosis: corneal confocal microscopy findings.

• Authors : Fu, Jiayu; He, Ji; Zhang, Yixuan

Subjects: AMYOTROPHIC lateral sclerosis; CONFOCAL microscopy; CORNEACENTERS for Disease Control & Prevention (U.S.)

• Source: Orphanet Journal of Rare Diseases; 1/6/2022, Vol. 17 Issue 1, p1-9, 9p

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The infantile neuroaxonal dystrophy rating scale (INAD-RS).

• Authors : Atwal, Paldeep S.; Midei, Mark; Adams, Darius

Subjects: DYSTROPHY; NEUROLOGIC examination; FINE motor ability

• Source: Orphanet Journal of Rare Diseases; 7/29/2020, Vol. 15 Issue 1, p1-9, 9p

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Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.

• Authors : Beerepoot S; Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, De Boelelaan 1117, Amsterdam, the Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, the Netherlands.

Subjects: Leukodystrophy, Metachromatic/Leukodystrophy, Metachromatic/Leukodystrophy, Metachromatic/*complications ; Peripheral Nervous System Diseases/Peripheral Nervous System Diseases/Peripheral Nervous System Diseases/*etiology; Genetic Predisposition to Disease

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Nov 04; Vol. 14 (1), pp. 240. Date of Electronic Publication: 2019 Nov 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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HINT1 neuropathy in Norway: clinical, genetic and functional profiling

• Authors : Geir J. Braathen; Lin V. Brauteset; Helle Høyer

Subjects: 0301 basic medicine; Proband; Turkey

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)Orphanet journal of rare diseases

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