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  • 対象とする言語：日本語

    • Mild reduction of plasmalogens causes rhizomelic ...

    1. https://kyushu-u.elsevierpure.com
    2. publications
    3. mild-re...
    1. https://kyushu-u.elsevierpure.com
    2. publications
    3. mild-re...

    Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder due to the deficiency in ether lipid synthesis.


    ペルオキシソーム病（副腎白質ジストロフィーを除く）（指定難病 ...

    1. https://www.nanbyou.or.jp
    2. entry
    1. https://www.nanbyou.or.jp
    2. entry

    ... Rhizomelic chondrodysplasia punctate type1：RCDP type1） 2．単独欠損症 (1)副腎白質ジストロフィー (2)β -酸化系酵素欠損症アシル‐CoAオキシダーゼ 1（AOX1 ...


    KEGG DISEASE: 肢根型点状軟骨異形成症

    1. https://www.kegg.jp
    2. entry
    3. ds_ja:H00207
    1. https://www.kegg.jp
    2. entry
    3. ds_ja:H00207

    Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb ...


    Rhizomelic chondrodysplasia punctata type 2 - NanbyoData

    1. https://nanbyodata.jp
    2. disease
    3. NANDO:1200771
    1. https://nanbyodata.jp
    2. disease
    3. NANDO:1200771

    Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. >> 翻訳 (Google). From MedGen. Rhizomelic ...


    Amazon | Reversing Rhizomelic Chondrodysplasia Punctata: As ...

    1. https://www.amazon.co.jp
    2. Reversing-Rhizomelic-Chond...
    1. https://www.amazon.co.jp
    2. Reversing-Rhizomelic-Chond...

    Reversing Rhizomelic Chondrodysplasia Punctata: As God Intended The Raw Vegan Plant-Based Detoxification & Regeneration Workbook for Healing Patients.


    Rhizomelic chondrodysplasia punctata - PubCaseFinder - DBCLS

    1. https://pubcasefinder.dbcls.jp
    2. gene:
    3. page:2
    4. size:10
    1. https://pubcasefinder.dbcls.jp
    2. gene:
    3. page:2
    4. size:10

    Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, ...


    高島 茂雄 (Shigeo Takashima) - 本邦初となるRhizomelic ... - researchmap

    1. https://researchmap.jp
    2. STakashima
    3. misc
    1. https://researchmap.jp
    2. STakashima
    3. misc

    本邦初となるRhizomelic chondrodysplasia punctata type 2の女児例. 日本先天代謝異常学会雑誌. 入月 浩美; ,; 長崎 啓祐; ,; 村上 玲子; ,; 柴田 奈央; ,; 佐々木 直; , ...


    胎児・新生児（1） Rhizomelic Chondrodysplasia Punctata（肢根 ...

    1. https://jsog-k.jp
    2. journal
    3. journal_detail
    1. https://jsog-k.jp
    2. journal
    3. journal_detail

    胎児・新生児（1） Rhizomelic Chondrodysplasia Punctata（肢根型点状軟骨異形成症）の一例。一般社団法人関東連合産科婦人科学.


    KEGG DISEASE: X連鎖性点状軟骨異形成症

    1. https://www.kegg.jp
    2. dbget-bin
    3. www_bget
    4. ds_ja:H01...
    1. https://www.kegg.jp
    2. dbget-bin
    3. www_bget
    4. ds_ja:H01...

    Different forms of CDP exist, the most common of which is inherited as an autosomal recessive trait (Rhizomelic CDP). CDP may also be inherited in a ...


    軟骨無形成症（指定難病276）

    1. https://www.nanbyou.or.jp
    2. entry
    1. https://www.nanbyou.or.jp
    2. entry

    1．概要軟骨無形成症は四肢短縮型低身長症を呈する骨系統疾患の代表で、およそ2万出生に1人の割合で発生する。特徴的な身体所見とX線像から診断は容易であるが有効な ...