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Abbreviation : XLP
Long Form : X-linked protoporphyria
No. Year Title Co-occurring Abbreviation
2020 Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. ALAS, CT
2019 Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. ALAS2, CEP, EPP, FECH, LOF, UROS
2019 Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. EPP
2019 Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. EPP, HADS, IPQ-R, PROMIS-57, QOL
2019 Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. ---
2019 Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. ADP, AIP, CEP, EPP, HCP, HD-AIP, HSC, PCT, UROD, VP
2019 Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study. EPP, QOL
2019 Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. ADP, AHPs, AIP, CEP, EPP, GOF, HCP, LOF, PCT, VP
2018 Porphyrias-what is verified? AIP, EPP, HCP, PBG, PCT, VP
10  2017 Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. EPP
11  2016 X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. ---
12  2015 Homeostasis of iron and hepcidin in erythropoietic protoporphyria. EPO, EPP, IDA
13  2015 Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. EPP
14  2015 Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. ADP, AIP, CEP, EPP, HCP, HEP, PCT, VP
15  2013 Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. EPP, FECH
16  2013 Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. SDS-PAGE