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protoporphyrin ix and Genetic Diseases, X-Chromosome Linked

protoporphyrin ix has been researched along with Genetic Diseases, X-Chromosome Linked in 4 studies

protoporphyrin IX: RN given refers to parent cpd; structure in Merck Index, 9th ed, #7685
protoporphyrin : A cyclic tetrapyrrole that consists of porphyrin bearing four methyl substituents at positions 3, 8, 13 and 17, two vinyl substituents at positions 7 and 12 and two 2-carboxyethyl substituents at positions 2 and 18. The parent of the class of protoporphyrins.

Research Excerpts

ExcerptRelevanceReference
"According to the clinical features, erythropoietic protoporphyria (EPP) was suspected."1.43X-linked dominant protoporphyria: The first reported Japanese case. ( Akasaka, E; Kokunai, Y; Moriwaki, S; Nakano, H; Ninomiya, Y; Tanizaki, H, 2016)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's4 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Brancaleoni, V1
Balwani, M1
Granata, F1
Graziadei, G1
Missineo, P1
Fiorentino, V1
Fustinoni, S1
Cappellini, MD1
Naik, H1
Desnick, RJ1
Di Pierro, E1
Fratz, EJ1
Clayton, J1
Hunter, GA1
Ducamp, S1
Breydo, L2
Uversky, VN2
Deybach, JC1
Gouya, L2
Puy, H2
Ferreira, GC2
Ninomiya, Y1
Kokunai, Y1
Tanizaki, H1
Akasaka, E1
Nakano, H1
Moriwaki, S1
Fratz-Berilla, EJ1

Other Studies

4 other studies available for protoporphyrin ix and Genetic Diseases, X-Chromosome Linked

ArticleYear
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
    Clinical genetics, 2016, Volume: 89, Issue:1

    Topics: Alleles; Erythrocytes; Female; Genes, X-Linked; Genetic Diseases, X-Linked; Genotype; Humans; Male;

2016
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
    Biochemistry, 2015, Sep-15, Volume: 54, Issue:36

    Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Enzyme Stability; Escherichia coli; Genetic Disea

2015
X-linked dominant protoporphyria: The first reported Japanese case.
    The Journal of dermatology, 2016, Volume: 43, Issue:4

    Topics: 5-Aminolevulinate Synthetase; Alleles; Cheek; Child; Diagnosis, Differential; Ferrochelatase; Geneti

2016
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.
    Biochimica et biophysica acta. Molecular basis of disease, 2017, Volume: 1863, Issue:2

    Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Enzyme Inhibitors; Genetic Diseases, X-Linked;

2017