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    • Opis choroby *

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    6日前 -Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal ...


    3Alpha,7Alpha,12Alpha-trihydroxy ... - PubChem

    1. https://pubchem.ncbi.nlm.nih.gov
    2. compound
    3. Trihydr...

    6日前 -Rhizomelic chondrodysplasia punctata. References. PubMed: 9818927. Disease. Infantile Refsum's disease. References. PubMed: 2427795, 2408988. MetaGene: ...


    Hexacosanoic acid | C26H52O2 | CID 10469 - PubChem

    1. https://pubchem.ncbi.nlm.nih.gov
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    6日前 -Rhizomelic chondrodysplasia punctata. References. PubMed: 9818927. Disease. Peroxisomal disorders, new type, liver. References. PubMed: 7931872. MetaGene ...


    Endocrine Journal - J-Stage

    1. https://www.jstage.jst.go.jp
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    1日前 -Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic shortened limbs and short stature. ACH is classified as belonging to ...


    Reduced alkyl-dihydroxyacetonephosphate ...

    1. https://130.14.29.110
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    1日前 -Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal ...


    Opis choroby *

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    5時間前 -severe micromelic dwar sm with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is ...


    Alfred Poulos - Researcher Profiles - The University of Adelaide

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    6日前 -Rhizomelic chondrodysplasia punctata: Clinical, pathologic, and biochemical findings in two patients. The Journal of Pediatrics, 113(4), 685-690. DOI Scopus ...


    GENES TESTED VIA NGS

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    6日前 -2B/Rhizomelic chondrodysplasia punctata, type 5. PEX6. Peroxisome Biogenesis Disorder 4A (Zellweger). PEX7. Rhizomelic Chondrodysplasia Punctata, Type 1. PFKM.


    C1GLC_HUMAN » C1GALT1-specific chaperone 1 - Membranome

    1. https://membranome.org
    2. proteins

    2日前 -DISEASE: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature (AHUS8) OMIM: An X-linked, atypical form of hemolytic uremic syndrome ...


    Q65-Q79 - Smart ICD10

    https://smarticd10.health.belgium.be

    1日前 -Rhizomelic chondrodysplasia punctata (E71.43). Q77.4. Achondroplasia. Hypochondroplasia Osteosclerosis congenita. Q77.5. Diastrophic dysplasia. Q77.6 ...