Congenital erythropoietic porphyria

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Photodynamic Therapy in Oncology: Mechanisms and Clinical Use

1993 • 755 citations

ECONOMY IN TULLE DRESSINGS

1971 • 447 citations

PORPHYRIN CONTENT OF BONE MARROW AND LIVER IN THE VARIOUS FORMS OF PORPHYRIA

1954 • 198 citations

Cutaneous Changes in the Porphyrias

1973 • 176 citations

UVA irradiation stimulates the synthesis of various matrix‐metalloproteinases (MMPs) in cultured human fibroblasts

1993 • 170 citations

Erythropoietic protoporphyria

1994 • 165 citations

THE GREAT PROTEIN FIASCO

1974 • 133 citations

UROPORPHYRINOGEN III COSYNTHETASE IN HUMAN CONGENITAL ERYTHROPOIETIC PORPHYRIA

1969 • 129 citations

Diseases of Porphyrin Metabolism

1963 • 127 citations

Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria

1980 • 108 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

ELECTRICAL STIMULATION OF THE BLADDER: A NEW PROSPECT AFTER SPINAL INJURY?

1965 • 96 citations

Complete Suppression of the Symptoms of Congenital Erythropoietic Porphyria by Long-Term Treatment with High-Level Transfusions

1986 • 96 citations

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

1988 • 95 citations

DISEASES OF PORPHYRIN METABOLISM

1963 • 94 citations

Thalassemic Osteoarthropathy

1978 • 83 citations

Erythropoietic (Congenital) Porphyria: A Rare Abnormality of the Normoblasts

1955 • 81 citations

Aluminium hydroxide granuloma.

1971 • 79 citations

Therapeutic Efficacy of Oral Charcoal in Congenital Erythropoietic Porphyria

1987 • 70 citations

Photosensitive or Congenital Porphyria with Hemolytic Anemia

1951 • 70 citations

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

1992 • 69 citations

The clinical porphyrias.

1968 • 66 citations

PORPHYRIN FORMATION AND HEMOGLOBIN METABOLISM IN CONGENITAL PORPHYRIA

1950 • 65 citations

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

1990 • 64 citations

The biosynthesis of uroporphyrinogen III: Order of assembly of the four porphobilinogen molecules in the formation of the tetrapyrrole ring

1979 • 60 citations

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

1981 • 59 citations

Histologic and immunofluorescence study of cutaneous porphyrias

1992 • 58 citations

Hematin Therapy for the Porphyric Attack

1982 • 57 citations

URINARY PORPHYRINS IN DISEASE

1936 • 56 citations

Transformation of porphobilinogen into porphyrins by preparations from human erythrocytes

1964 • 55 citations

Uroporphyrinogen III cosynthetase in asymptomatic carriers of congenital erythropoietic porphyria

1970 • 54 citations

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2?q26.3

1991 • 53 citations

Repression by Hematin of Porphyrin Biosynthesis in Erythrocyte Precursors in Congenital Erythropoietic Porphyria

1974 • 52 citations

Hematin and Porphyria

1975 • 52 citations

Purification and properties of uroporphyrinogen III synthase from human erythrocytes.

1987 • 52 citations

Purification and properties of uroporphyrinogen III synthase (co-synthase) from an overproducing recombinant strain of Escherichia coli K-12

1989 • 50 citations

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

1992 • 48 citations

Die soziale Anamnese im Krankenhaus¹

1934 • 47 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

Biochemical Lesions in Porphyria

1965 • 44 citations

Biosynthesis of Porphyrins and Congenital Porphyria

1950 • 42 citations

Untersuchungen über Porphyrie : mit besonderer Berücksichtigung der Porphyria congenita

1929 • 41 citations

The Anaemia of Erythropoietic Porphyria with the First Description of the Disease in an Elderly Patient

1965 • 40 citations

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk

1980 • 40 citations

Structure of a juxtaglomerular cell tumor: the presence of a neural component: a light and electron microscopic study.

1977 • 38 citations

The Porphyrias: Clinical Chemistry, Diagnosis and Methodology

1980 • 37 citations

Rates of Plasma Porphrin Disappearance in Fluorescent Vs. Red Incandescent Light Exposure

1977 • 37 citations

HEMATIN THERAPY IN LATE ONSET CONGENITAL ERYTHROPOIETIC PORPHYRIA

1990 • 37 citations

Isotopic Studies of the Erythropoietic and Hepatic Components of Congenital Porphyria and ‘Erythropoietic’ Protoporphyria

1973 • 34 citations

CONGENITAL ERYTHROPOIETIC PORPHYRIA WITH A HITHERTO UNDESCRIBED PORPHYRIN PATTERN

1973 • 34 citations

The biosynthesis of haem in congenital (erythropoietic) porphyria

1978 • 33 citations

Some Studies of the Comparative Biology of Human and Bovine Erythropoietic Porphyria

1959 • 33 citations

STUDIES IN PORPHYRIA

1977 • 32 citations

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

1993 • 32 citations

Congenital Erythropoietic Porphyria. II. The Effects of Induced Polycythemia

1970 • 32 citations

COMPARATIVE ASPECTS OF PORPHYRIA IN MAN AND ANIMALS*

1975 • 32 citations

Congenital erythropoietic porphyria

1968 • 31 citations

Haematological Aspects in a Case of Erythropoietic Porphyria

1958 • 30 citations

Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity

1992 • 29 citations

Neuere Ergebnisse auf dem Gebiete der Porphyrien

1953 • 29 citations

Isolation and properties of wheat germ uroporphyrinogen III cosynthetase

1968 • 29 citations

EFFECT OF SPLENECTOMY ON PORPHYRIA ERYTHROPOIETICA

1955 • 28 citations

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

1975 • 28 citations

EFFECT OF SPLENECTOMY IN A CASE OF CONGENITAL PORPHYRIA

1952 • 28 citations

The activities of uroporphyrinogen synthetase and cosynthetase in congenital erythropoietic porphyria (cep)

1976 • 27 citations

Porphyria erythropoetica congenita Günther

1963 • 27 citations

On Congenital Porphyrinuria, Associated with Hydroa Aestivale and Pink Teeth

1922 • 26 citations

Effect of splenectomy on porphyria erythropoietica.

1955 • 26 citations

Erythropoietic Porphyria of the Fox Squirrel Sciurus niger

1973 • 26 citations

Congenital Erythropoietic Porphyria

1982 • 26 citations

Urinary excretion of position isomers of penta-and hexa-carboxylated porphyrins belonging to the isomer III series in a case of congenital erythropoietic porphyrin

1977 • 26 citations

Porphyrin studies in congenital erythropoietic porphyria. Studies on a sample of faeces and a sample of urine from a patient with C.E.P. and comparison with a bovine case of this disease.

1973 • 25 citations

Treatment of photosensitivity in congenital erythropoietic porphyria (CEP) with beta-carotene

1974 • 25 citations

CONGENITAL ERYTHROPOIETIC PORPHYRIA. REPORT OF A CASE

1967 • 24 citations

Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis

1982 • 23 citations

Hematologic Studies on Erythropoietic Porphyria: A New Case with Severe Hemolysis, Chronic Thrombocytopenia, and Folic Acid Deficiency

1964 • 22 citations

Haematoporphyria Congenita with Hydroa Vacciniforme and Hirsuties

1926 • 22 citations

PORPHYRIA AND PORPHYRINURIA

1947 • 21 citations

Porphyrin Distribution and Porphyrin Excretion in Human Congenital Erythropoietic Porphyria

1974 • 21 citations

Congenital Erythropoietic Porphyria

1974 • 21 citations

Porphyrin Distribution and Porphyrin Excretion in Human Congenital Erythropoietic Porphyria

1974 • 21 citations

Über hereditäre Syphilis und Haematoporphyrinurie

1903 • 21 citations

CONGENITAL PORPHYRIA, HYDROA AESTIVALE AND HYPERTRICHOSIS IN A SOUTH AFRICAN BANTU

1950 • 20 citations

Congenital Erythropoietic Porphyria

1992 • 20 citations

Late onset erythropoietic porphyria

1989 • 19 citations

BIOCHEMICAL AND PATHOLOGICAL STUDIES OF CONGENTTAL PORPHYRIA<sup>1</sup>

1953 • 19 citations

Scleral Involvement in Symptomatic Porphyria

1977 • 19 citations

Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis

1982 • 19 citations

Brown amiotic fluid in congenital erythropoietic porphyria.

1980 • 19 citations

[Erythropoietic protoporphyria: synopsis of 20 patients].

1991 • 18 citations

A NEW FORM OF CONGENITAL HEMATOPORPHYRIA: OLIGOCHROMEMIA PORPHYRINURIA (MEGALOSPLENICA CONGENITA)

1926 • 18 citations

The osteodystrophy of congenital erythropoietic porphyria

1991 • 18 citations

Corneal and Conjunctival Changes in Congenital Erythropoietic Porphyria

1989 • 18 citations

THE EXCRETION OF PORPHYRINS IN CONGENITAL PORPHYRIA

1938 • 18 citations

548 PRENATAL DIAGNOSIS OF CONGENITAL ERYTHROPOIETIC ETIC PORPHYRIA

1978 • 17 citations

[Congenital erythropoietic porphyria].

1987 • 16 citations

The effect of oral activated charcoal on the course of congenital erythropoietic porphyria

1993 • 16 citations

Porphyria in South Africa: the faecal excretion of porphyrin.

1958 • 16 citations

The cutaneous porphyrias.

1968 • 16 citations

Congenital erythropoietic porphyria (Gunther's disease)

1987 • 16 citations

Biochemical diagnosis and monitoring therapeutic modulation of disease activity in an unusual case of congenital erythropoietic porphyria.

1985 • 15 citations

The pigmentation of dental tissues in erythropoietic (congenital) porphyria

1972 • 15 citations

Congenital Porphyria

1980 • 15 citations

Radiological features in congenital erythropoietic porphyria (Gunther's disease)

1988 • 14 citations

Analytical review enzymatic defects of hereditary porphyrias: An explanation of dominance at the molecular level

1977 • 14 citations

Ocular involvement in two symptomatic congenital erythropoietic porphyria

1993 • 14 citations

ERYTHROPOIETIC (CONGENITAL) PORPHYRIA

1957 • 13 citations

Haematoporphyria Congenita (Congenital Porphyrinuria): Its Association with Hydroa Vacciniforme and Pigmentation of the Teeth

1926 • 13 citations

Congenital erythropoietic uroporphyria (Günther's disease) presenting in a middle aged man

1978 • 13 citations

ELECTRON MICROSCOPIC STUDY OF PORPHYRIAS

1975 • 12 citations

The radiological features of congenital porphyria

1970 • 12 citations

CONGENITAL ERYTHROPOIETIC PORPHYRIA: The Effect of Light Shielding

1973 • 12 citations

The Effect of Bleeding on the Proportion of Red Fluorescing Forms among the Total Normoblasts of Bovine Porphyric Bone Marrow

1969 • 11 citations

CHOLESTYRAMINE AND PORPHYRIN-BINDING

1966 • 11 citations

Erythropoietic Porphyria

1977 • 11 citations

Skeletal abnormalities in a case of congenital erythropoietic porphyria

1990 • 10 citations

The Erythropoietic Porphyrias

1964 • 10 citations

Congenital porphyria: general and ocular manifestations.

1972 • 10 citations

Congenital Porphyria

1965 • 10 citations

Congenital Erythropoietic Porphyria

1977 • 10 citations

Porphyria erythropoetica congenita G�nther und Chloroquin

1978 • 9 citations

Porphyria erythropoetica congenita Günther

1977 • 9 citations

PYRIDOXAL 5-PHOSPHATE THERAPY IN A PATIENT WITH MYELODYSPLASTIC SYNDROME AND ADULT ONSET CONGENITAL ERYTHROPOIETIC PORPHYRIA

1992 • 9 citations

Congenital porphyria in siblings

1958 • 9 citations

Congenital erythropoietic porphyria

2004 • 9 citations

Diaper Diagnosis of Porphyria

1994 • 9 citations

CUTANEOUS PORPKYRIA IN EGYPTIANS.

1964 • 8 citations

Electron Microscopy of the Red Cells in Erythropoietic Porphyria

1965 • 8 citations

Turnover of erythrocyte protoporphyrin, with special reference to bovine porphyria and iron deficiency anemia.

1976 • 7 citations

Corneoscleral ulceration in congenital erythropoietic porphyria (a case report).

1988 • 7 citations

MED-action spectra in polymorphic light eruption and in porphyria compared with model normal spectra.

1977 • 7 citations

δ-Aminolevulinic Acid Synthetase Activity in Human Plasma: Relation to Erythropoiesis and Evidence of Induction in Erythropoietic Porphyria

1972 • 6 citations

Hydroa aestivale: congenital porphyria.

1951 • 6 citations

CONGENITAL PORPHYRINURIA<xref ref-type="fn" rid="fn1"><sup>1</sup></xref>: A POSTSCRIPT

1936 • 6 citations

The Anaemia of Erythropoietic Porphyria

1967 • 6 citations

Porphyria erythropoietica in India. A review report on 21 cases.

1971 • 6 citations

Effect of cell growth inhibiting factors, epidermal chalone and interferon, on the proliferation of epidermal cells.

1977 • 5 citations

Cyclophosphamide and congenital erythropoietic porphyria.

1985 • 5 citations

The Porphyrias

1987 • 5 citations

CORRESPONDENCE

1964 • 5 citations

Spectral Region of Photosensitivity in Hydroa Aestivale Seu Vacciniforme with Porphyrinuria

1936 • 5 citations

Family study in congenital erythropoietic porphyria.

1971 • 5 citations

Photobiological aspects of porphyria.

1968 • 5 citations

[Gunther's congenital erythropoietic porphyria and carotenoids. Therapeutic attempt of 4 years].

1982 • 5 citations

THE EFFECT OF VARIOUS THERAPEUTIC TRIALS ON THE PORPHYRIN EXCRETION IN A CASE OF CONGENITAL ERYTHROPOIETIC PORPHYRIA

1975 • 5 citations

Demonstrationen

1978 • 5 citations

[A case of congenital porphyria treated by adenosine-5-monophosphoric acid].

1963 • 5 citations

OBSERVATIONS ON THERAPEUTIC ASPECTS OF PORPHYRIA ERYTHROPOIETICA WITH PARTICULAR REFERENCE TO STEROID THERAPY.

1963 • 4 citations

[Congenital porphyria with erythrodontia, splenomegaly and anemia in two sisters].

1954 • 3 citations

Congenital Erythropoietic Porphyria and Congenital Adrenal Hyperplasia with Evidence for Hepatic Δ-5α-Reductase Deficiency

1989 • 3 citations

Erythropoietic (congenital) porphyria in a Bantu girl.

1958 • 3 citations

COMPARATIVE ASPECTS OF PORPHYRIAIN MAN AND ANIMALS *

1974 • 3 citations

Family study in congenital erythropoietic porphyria

1971 • 3 citations

Porphyria erythropoietica. Review of Indian literature and report of two new cases.

1962 • 2 citations

[Günther's erythropoietic porphyria with late disclosure].

1983 • 2 citations

[Congenital erythropoietic porphyria: a familial case].

1992 • 2 citations

Congenital erythropoietic porphyria. A case report with discussion of different porphyrin excretion patterns.

1984 • 1 citations

[Contribution to the study of erythropoietic porphyria: 2 cases with hemolytic anemia, splenomegaly and adrenal hypofunction].

1960 • 1 citations

[Erythropoietic prophyria. Note I. The behavior of the porphyrin metabolism].

1959 • 1 citations

Erythropoietic uroporphyria (a case report).

1977 • 1 citations

Deleted Work

1955 • 0 citations