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Publications by Maria C.M. Ramirez
Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions
American Journal of Human Genetics
Genetics
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548 Prenatal Diagnosis of Congenital Erythropoietic Etic Porphyria
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46. Gene Therapy of Congenital Erythropoietic Porphyria Using Genetically Modified Induced Pluripotent Stem Cells
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Metabolic Correction of Congenital Erythropoietic Porphyria With iPSCs Free of Reprogramming Factors
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Structural Diversity in Metal Ion Chelation and the Structure of Uroporphyrinogen III Synthase
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Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation
Molecular Medicine
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A Novel Ataxin-3 Knock-In Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities
Rat Liver Uroporphyrinogen III Synthase Has Similar Properties to the Enzyme fromEuglena Gracilis, Including Absence of a Requirement for a Reversibly Bound Cofactor for Activity
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
Family Evaluations in Acute Intermittent Porphyria Using Red Cell Uroporphyrinogen I Synthetase.
Journal of Medical Genetics
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The Role of Iron in the Pathogenesis of Porphyria Cutanea Tarda. II. Inhibition of Uroporphyrinogen Decarboxylase.
Journal of Clinical Investigation
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