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Enzyme replacement in genetic disease. Prospectus

W Krivit, R W Bernlohr, R J Desnick

Birth Defects Original Article Series

|March 1, 1973

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No abstract available in PubMed .

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Related Articles

Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure.

Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations.

Many pitfalls in diagnosis of acute intermittent porphyria: a case report.

Exome sequencing of extreme clopidogrel response phenotypes identifies B4GALT2 as a determinant of on-treatment platelet reactivity.

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.

Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.