Disease: Rhizomelic chondrodysplasia punctata- type 3
- A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II
- A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
- A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report
- Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
- Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
- Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome
- Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice
- Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type
- Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature
- Chondrodysplasia punctata, humero-metacarpal type: a second case
- Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders
- Chondrodysplasia punctata. 3 new cases and review of the Spanish literature
- Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations
- Comparative study of serine-plasmalogens in human retina and optic nerve: identification of atypical species with odd carbon chains
- Congenital epiphyseal chondrodysplasia punctata. Study of 9 cases
- Congenital heart defects common in rhizomelic chondrodysplasia punctata
- Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis
- Differential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies
- Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature
- Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3
- Growth charts for individuals with rhizomelic chondrodysplasia punctata
- Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens
- Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders
- Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1
- Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid
- Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes
- Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids
- Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders
- Identifying a recombinant alkyldihydroxyacetonephosphate synthase suited for crystallographic studies
- Impaired neurotransmission in ether lipid-deficient nerve terminals
- In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
- Lethal short-limbed chondrodysplasia in early infancy
- Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation
- Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients
- MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
- Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
- Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice
- Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group
- Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata
- Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination
- Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report
- Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type
- Prenatal and perinatal diagnosis of peroxisomal disorders
- Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction
- Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome)
- Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes
- Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts
- Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
- Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India
- Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy
- Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1
- Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
- Surgical management of cervical spine deformity in chondrodysplasia punctata
- Targeted carrier screening for four recessive disorders: high detection rate within a founder population
- The crucial step in ether phospholipid biosynthesis: structural basis of a noncanonical reaction associated with a peroxisomal disorder
- The peroxisome and the eye