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Research article

First published 2011-4

Enzyme Replacement Therapy Prevents Dental Defects in a Model of Hypophosphatasia

M.D. McKee, Y. Nakano, D.L. Masica [...]

Journal of Dental Research

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Research article

First published 1995-01

Correction of the Enzyme Defect in Cultured Congenital Erythropoietic Porphyria Disease Cells by Retrovirus-Mediated Gene Transfer

F. Moreau-Gaudry, C. Ged, C. Barbot [...]

Human Gene Therapy

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Meeting report

First published 1963-4

Acrodermatitis Enteropathica: Demonstration of Possible Intestinal Enzyme Defect

E J Moynahan, F R Johnson, R M H McMinn

Journal of the Royal Society of Medicine

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Research article

First published 2024-06

Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria

Ainhoa Martínez-Pizarro, Mar álvarez, Maja Dembic [...]

Nucleic Acid Therapeutics

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Research article

First published 2004-7

Bile Acid Synthetic Defects and Liver Disease: A Comprehensive Review

Kevin E. Bove, James E. Heubi, William F. Balistreri [...]

Pediatric and Developmental Pathology

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Review article

First published 2012-3

Buccal Swab Analysis of Mitochondrial Enzyme Deficiency and DNA Defects in a Child With Suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF)

William R. Yorns, Ignacio Valencia, Aditya Jayaraman [...]

Journal of Child Neurology

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Abstract

First published 1989-2

A histochemical principle bearing on correctness of diagnosis in storage diseases.

M Wolman

Journal of Histochemistry & Cytochemistry

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Research article

First published 2002-10

Controlled Enzymatic Matrix Degradation for Integrative Cartilage Repair: Effects on Viable Cell Density and Proteoglycan Deposition

Thomas M. Quinn, Ernst B. Hunziker

Tissue Engineering Part A: Research Advances

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Other

First published 2002-01

Presence of the 5,10-Methylenetetrahydrofolate Reductase C677T Mutation in Puerto Rican Patients With Neural Tube Defects

Lourdes Garcia-Fragoso, Inés García-García, Alberto de la Vega [...]

Journal of Child Neurology

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Research article

First published 1971-10

Development of Abnormal Lipid Bodies in Various Sphingolipidoses 1

Masazumi Adachi, Bruno W. Volk

Experimental Biology and Medicine

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