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rdf:type
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description
| - videnskabelig artikel (da)
- article científic (ca)
- articol științific (ro)
- articolo scientifico (it)
- artigo científico (gl)
- artigo científico (pt)
- artigo científico (pt-br)
- artikull shkencor (sq)
- artykuł naukowy (pl)
- artículo científico (es)
- bilimsel makale (tr)
- mokslinis straipsnis (lt)
- scienca artikolo (eo)
- vedecký článok (sk)
- vetenskaplig artikel (sv)
- vitenskapelig artikkel (nb)
- vitskapeleg artikkel (nn)
- vědecký článek (cs)
- wetenschappelijk artikel (nl)
- научна статия (bg)
- научная статья (ru)
- научни чланак (sr)
- מאמר מדעי (he)
- artikel ilmiah (id)
- bài báo khoa học (vi)
- мақолаи илмӣ (tg-cyrl)
- научни чланак (sr-ec)
- article scientifique (fr)
- مقالة علمية (ar)
- বৈজ্ঞানিক নিবন্ধ (bn)
- maqolai ilmiy (tg-latn)
- наукова стаття, опублікована у вересні 1967 (uk)
- scientific article (en-gb)
- znanstveni članek (sl)
- lūn-bûn (nan)
- 学术文章 (zh-cn)
- 学术文章 (zh-sg)
- 学术文章 (zh-hans)
- 学术文章 (wuu)
- 学术文章 (zh-my)
- 学術論文 (ja)
- 學術文章 (zh)
- 學術文章 (zh-hk)
- 學術文章 (zh-tw)
- 學術文章 (zh-hant)
- 學術文章 (yue)
- 學術文章 (zh-mo)
- 논문 (ko)
- im September 1967 veröffentlichter wissenschaftlicher Artikel (de)
- scientific article published on 01 September 1967 (en)
- artículu científicu espublizáu en setiembre de 1967 (ast)
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publication date
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publication date
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language of work or name
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language of work or name
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author name string
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author name string
| - R. N. Rosenberg
- A. Chutorian
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rdfs:label
| - Familial opticoacoustic nerve degeneration and polyneuropathy (en)
- Familial opticoacoustic nerve degeneration and polyneuropathy (nl)
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skos:prefLabel
| - Familial opticoacoustic nerve degeneration and polyneuropathy (en)
- Familial opticoacoustic nerve degeneration and polyneuropathy (nl)
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name
| - Familial opticoacoustic nerve degeneration and polyneuropathy (en)
- Familial opticoacoustic nerve degeneration and polyneuropathy (nl)
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title
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title
| - Familial opticoacoustic nerve degeneration and polyneuropathy (en)
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page(s)
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page(s)
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instance of
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instance of
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main subject
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main subject
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PubMed ID
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PubMed ID
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PubMed ID
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published in
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full work available at URL
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published in
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full work available at URL
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issue
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volume
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issue
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volume
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DOI
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DOI
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DOI
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is about
of | |
is cites work
of | - Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients
- Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
- PRPS1 mutations: four distinct syndromes and potential treatment.
- Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
- Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
- A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
- A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
- A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome
- Bilateral Abductor Vocal Cord Paralysis in Charcot-Marie-Tooth Disease
- Hereditary motor and sensory neuropathy type VI with optic atrophy
- "Auditory neuropathy": physiologic and pathologic evidence calls for more diagnostic specificity
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