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 ...
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. DOI PDF 被引用文献12件.
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. >> 翻訳 (Google). From MedGen. Rhizomelic ...
... 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 ...
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, ...
Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 ...
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.
Internationalさんと一緒にいます。 2019/02/28. Rhizomelic Chondrodysplasia Punctata (RCDP) is rare paediatric disease with no treatment. "Rhizokids" have ...
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 ...