Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder due to the deficiency in ether lipid synthesis.
Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb ...
Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 ...
Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and ...
1．概要ペルオキシソーム病は細胞内ペルオキシソームに局在する酵素・タンパクの単独欠損症と、それらのタンパクをペルオキシソームに局在させるために必要なPEXタンパクの ...
我々が経験したRCPはPEX7遺伝子にコードされるペルオキシソームの酵素欠損により生じる常染色体劣性遺伝疾患であり，1年以内に死亡することが多い．超音波診断や発症時期のみ ...
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.
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; , ...
2011/8/1 -意味・対訳 肢根型点状軟骨異形成症,肢根点状軟骨異形成症. 公式【2024年】料金が安い英語コーチングおすすめランキング！おすすめ17社を徹底比較・ ...
<p>Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic shortened limbs and short stature. ACH is classified as belonging ...