Porphyrias: Animal models and prospects for cellular and gene therapy

The Basic Science of Gene Therapy

1993 • 1,767 citations

Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis

1995 • 700 citations

Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia

1994 • 562 citations

Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.

1991 • 132 citations

UROPORPHYRINOGEN III COSYNTHETASE IN HUMAN CONGENITAL ERYTHROPOIETIC PORPHYRIA

1969 • 129 citations

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1991 • 116 citations

Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.

1994 • 115 citations

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.

1995 • 103 citations

Bone-marrow transplantation for congenital erythropoietic porphyria

1991 • 97 citations

The ADA Human Gene Therapy Clinical Protocol Original Covering Memo: February 23, 1990

1990 • 96 citations

Treatment of Severe Combined Immunodeficiency Disease (SCID) due to Adenosine Deaminase Deficiency with CD34⁺Selected Autologous Peripheral Blood Cells Transduced with a Human ADA Gene (Amendment). National Institutes of Health

1993 • 96 citations

Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.

1988 • 95 citations

Ex Vivo Gene Therapy of Familial Hypercholesterolemia. Howard Hughes Medical Institute, University of Michigan

1992 • 83 citations

Liver transplantation in a patient with protoporphyria

1989 • 73 citations

Bovine Protoporphyria: The First Nonhuman Model of This Hereditary Photosensitizing Disease

1977 • 71 citations

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

1992 • 69 citations

Erythropoietic protoporphyria: Unusual skin and neurological problems after liver transplantation

1991 • 69 citations

Ferrochelatase Structural Mutant (Fechm1Pas) in the House Mouse

1993 • 68 citations

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease)

1990 • 64 citations

Hepatic gene therapy: Present and future

1993 • 60 citations

Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.

1981 • 59 citations

Liver transplantation for protoporphyria. Evidence for the predominant role of the erythropoietic tissue in protoporphyrin overproduction.

1988 • 59 citations

Transfer of the ADA Gene into Bone Marrow Cells and Peripheral Blood Lymphocytes for the Treatment of Patients Affected by ADA-Deficient SCID

1993 • 55 citations

Uroporphyrinogen III cosynthetase in asymptomatic carriers of congenital erythropoietic porphyria

1970 • 54 citations

Liver Transplantation for Protoporphyria

1988 • 54 citations

Molecular defect in human erythropoietic protoporphyria with fatal liver failure

1993 • 51 citations

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

1992 • 48 citations

Uroporphyrinogen III Cosynthetase in Bovine Erythropoietic Porphyria

1968 • 46 citations

Uroporphyrinogen III cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria

1970 • 44 citations

Liver transplantation for erythropoietic protoporphyria

1992 • 39 citations

Congenital Porphyria in Pigs

1944 • 39 citations

Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B- cell lines

1995 • 36 citations

Treatment of Patients with Severe Combined Immunodeficiency due to Adenosine Deaminase (ADA) Deficiency by Autologous Transplantation of Genetically Modified Bone Marrow Cells. University Hospital Leiden and Institute of Applied Radiobiology and Immunology TNO, The Netherlands

1992 • 35 citations

Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis

1993 • 32 citations

Congenital porphyria in the domestic cat (Felis catus): preliminary investigations on inheritance pattern.

1968 • 31 citations

PORPHYRIA IN DOMESTIC ANIMALS: DANISH OBSERVATIONS IN PIGS AND CATTLE AND COMPARISON WITH HUMAN PORPHYRIA

1963 • 31 citations

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

1995 • 30 citations

Feline congenital erythropoietic porphyria associated with severe anemia and renal disease. Clinical, morphologic, and biochemical studies.

1975 • 28 citations

Erythropoietic Porphyria of the Fox Squirrel Sciurus niger

1973 • 26 citations

Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity.

1982 • 24 citations

CONGENITAL PORPHYRIA IN A CAT.

1964 • 22 citations

Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyria.

1991 • 21 citations

Animal model: normal porphyria of fox squirrels (Sciurus niger).

1977 • 20 citations

Identification of Two New Mutations in Congenital Erythropoietic Porphyria

1995 • 20 citations

Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect.

1981 • 19 citations

Comparison of bile porphyrin concentrations in cattle and human beings with protoporphyria

1990 • 9 citations

The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse Chromosome 7

1994 • 8 citations

Comparison of human and bovine protoporphyria.

1979 • 5 citations