Hepatic porphyrias in children

Neurologic Crises in Hereditary Tyrosinemia

1990 • 224 citations

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

1996 • 214 citations

New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation

1979 • 155 citations

Porphyria turcica due to hexachlorobenzene: a 20 to 30 year follow-up study on 204 patients

1984 • 123 citations

Hepatology: A textbook of liver disease

1991 • 100 citations

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

1965 • 96 citations

Harderoporphyria: a variant hereditary coproporphyria.

1983 • 91 citations

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria

1996 • 86 citations

Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

1996 • 74 citations

Uroporphyrinogen decarboxylase

1995 • 73 citations

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms

1994 • 65 citations

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

1992 • 63 citations

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.

1992 • 62 citations

Homozygous variegate porphyria: an evolving clinical syndrome

1993 • 61 citations

Aminolaevulinate Dehydratase Porphyria in Infancy. A Clinical and Biochemical Study

1987 • 58 citations

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria

1995 • 58 citations

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

1991 • 51 citations

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

1987 • 49 citations

Neonatal bullous eruption as a result of transient porphyrinemia in a premature infant with hemolytic disease of the newborn

1995 • 45 citations

Porphobilinogen deaminase gene structure and molecular defects

1995 • 35 citations

A retrospective study of a patient with homozygous form of acute intermittent porphyria

1989 • 34 citations

Hepatoerythropoietic Porphyria

1987 • 30 citations

Homozygous variegate porphyria: a case report

1990 • 28 citations

Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: Immunologic characterization of the non-catalytic enzyme

1985 • 23 citations

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity

1990 • 23 citations

Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria

1995 • 20 citations

Hepatoerythropoietic porphyria precipitated by viral hepatitis.

1993 • 19 citations

Acute intermittent porphyria in childhood. A neglected diagnosis?

1974 • 19 citations

Hereditary hepatic porphyria due to homozygous δ-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes

1991 • 19 citations

Cutaneous photosensitivity and coproporphyrin abnormalities in the Alagille syndrome

1990 • 15 citations

Neurologic Disease in a Child With Hepatoerythropoietic Porphyria

1994 • 15 citations

An unusual case of variegate porphyria with possible homozygous inheritance

1990 • 13 citations

[Acute intermittent porphyria at 4 months of age].

1976 • 3 citations