Clinical features of inherited neuropathy with
            BSCL2
            mutations in Japan

Satoshi Ishihara; Yuji Okamoto; Hajime Tanabe; Akiko Yoshimura; Yujiro Higuchi; Jun‐Hui Yuan; Akihiro Hashiguchi; Hiroyuki Ishiura; Jun Mitsui; Shugo Suwazono; Yasushi Oya; Masayuki Sasaki; Masanori Nakagawa; Shoji Tsuji; Yusuke Ohya; Hiroshi Takashima

doi:10.1111/jns.12369

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

Journal of the Peripheral Nervous System ◽

10.1111/jns.12369 ◽

2020 ◽

Vol 25 (2) ◽

pp. 125-131

Author(s):

Satoshi Ishihara ◽

Yuji Okamoto ◽

Hajime Tanabe ◽

Akiko Yoshimura ◽

Yujiro Higuchi ◽

...

Keyword(s):

Clinical Features ◽

Inherited Neuropathy

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Speckled (particulate) epidermal nuclear IgG deposition in normal skin. Correlation of clinical features and laboratory findings in 46 patients with a subset of connective tissue disease characterized by antibody to extractable nuclear antigen

Archives of Dermatology ◽

10.1001/archderm.114.5.705 ◽

1978 ◽

Vol 114 (5) ◽

pp. 705-710 ◽

Cited By ~ 17

Author(s):

S. D. Prystowsky

Keyword(s):

Connective Tissue ◽

Connective Tissue Disease ◽

Clinical Features ◽

Normal Skin ◽

Nuclear Antigen ◽

Laboratory Findings ◽

Extractable Nuclear Antigen

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Solar urticaria. Clinical features and wavelength dependence

Archives of Dermatology ◽

10.1001/archderm.118.4.228 ◽

1982 ◽

Vol 118 (4) ◽

pp. 228-231 ◽

Cited By ~ 11

Author(s):

M. Ravits

Keyword(s):

Clinical Features ◽

Wavelength Dependence ◽

Solar Urticaria

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Staphylococcal scalded skin syndrome. Clinical features, pathogenesis, and recent microbiological and biochemical developments

Archives of Dermatology ◽

10.1001/archderm.113.2.207 ◽

1977 ◽

Vol 113 (2) ◽

pp. 207-219 ◽

Cited By ~ 42

Author(s):

P. M. Elias

Keyword(s):

Clinical Features ◽

Staphylococcal Scalded Skin Syndrome

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Fibrosing cholestatic hepatitis: Clinical features, outcome and response to interferon and ribavirin

Gastroenterology ◽

10.1016/s0016-5085(01)82801-8 ◽

2001 ◽

Vol 120 (5) ◽

pp. A563-A564

Author(s):

M ISMAIL ◽

I DABOUL ◽

B WATERS ◽

J FLECKENSTEIN ◽

S VERA ◽

...

Keyword(s):

Clinical Features ◽

Cholestatic Hepatitis

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The clinical features of gallstone disease in heart failure caused by rheumatic heart diseases

Gastroenterology ◽

10.1016/s0016-5085(01)81924-7 ◽

2001 ◽

Vol 120 (5) ◽

pp. A388-A388

Author(s):

E BARANSKAYA ◽

V IVASHKIN

Keyword(s):

Heart Failure ◽

Clinical Features ◽

Heart Diseases ◽

Gallstone Disease ◽

Rheumatic Heart

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Clinical features and prevalence of chronic atrial fibrillation in dyalized patients: A multi-center study

EP Europace ◽

10.1016/s1099-5129(01)80226-9 ◽

2001 ◽

Vol 2 ◽

pp. A51-A51

Keyword(s):

Atrial Fibrillation ◽

Clinical Features ◽

Chronic Atrial Fibrillation ◽

Multi Center Study ◽

Center Study

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Abstract #873: Association of Patterns in the Oral Glucose Tolerance Test and Different Clinical Features in Patients with Insulinoma

Endocrine Practice ◽

10.1016/s1530-891x(20)43699-7 ◽

2005 ◽

Vol 11 ◽

pp. 28

Author(s):

Fanny Rodriguez Vallejo ◽

Juan Manuel Rios Torres ◽

Francisco J. Gomez-Pérez ◽

Juan A. Rull Rodrigo ◽

Bernardo Pérez Enriquez

Keyword(s):

Glucose Tolerance ◽

Oral Glucose Tolerance Test ◽

Clinical Features ◽

Glucose Tolerance Test ◽

Tolerance Test ◽

Oral Glucose ◽

Oral Glucose Tolerance

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Prevalence of HIV Type 1 Infection, Associated Clinical Features and Mortality among Hospitalized Children in Dar es Salaam, Tanzania

Scandinavian Journal of Infectious Diseases ◽

10.1080/003655400750044917 ◽

2000 ◽

Vol 32 (4) ◽

pp. 357-363 ◽

Cited By ~ 11

Author(s):

Grace Kawo, Katarina Karlsson, Eligius Ly

Keyword(s):

Clinical Features ◽

Dar Es Salaam ◽

Hospitalized Children ◽

Hiv Type 1

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Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme

Archives of Internal Medicine ◽

10.1001/archinte.130.2.193 ◽

1972 ◽

Vol 130 (2) ◽

pp. 193-198 ◽

Cited By ~ 4

Author(s):

M. L. Greene

Keyword(s):

Clinical Features ◽

Partial Deficiency

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Age related macular degeneration (ARMD) – pathophysiological and clinical features and therapeutic concepts

Therapeutische Umschau ◽

10.1024/0040-5930.58.1.28 ◽

2001 ◽

Vol 58 (1) ◽

pp. 28-35 ◽

Cited By ~ 1

Author(s):

Ursula Körner-Stiefbold

Keyword(s):

Macular Degeneration ◽

Clinical Features ◽

Altersbedingte Makuladegeneration ◽

Age Related Macular Degeneration ◽

Genetische Faktoren ◽

Age Related ◽

Therapeutic Concepts

Die altersbedingte Makuladegeneration (AMD) ist eine der häufigsten Ursachen für einen irreversiblen Visusverlust bei Patienten über 65 Jahre. Nahezu 30% der über 75-Jährigen sind von einer AMD betroffen. Trotz neuer Erkenntnisse in der Grundlagenforschung ist die Ätiologie, zu der auch genetische Faktoren gehören, noch nicht völlig geklärt. Aus diesem Grund sind die Behandlungsmöglichkeiten zum jetzigen Zeitpunkt noch limitiert, so dass man lediglich von Therapieansätzen sprechen kann. Die derzeit zur Verfügung stehenden Möglichkeiten wie medikamentöse, chirurgische und laser- und strahlentherapeutische Maßnahmen werden beschrieben.

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