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Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case reports in genetics, 2020-10, Vol.2020 (2020), p.1-6

2020

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Porfirias poco frecuentes: Casos detectados en la población argentina

Revista argentina de dermatología, 2006-12, Vol.87 (4), p.248-263

2006

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Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

Journal of the European Academy of Dermatology and Venereology, 2013-06, Vol.27 (6), p.754-762

2013

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Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

American journal of human genetics, 1998-11, Vol.63 (5), p.1363-1375

1998

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An odd case of heteroallelic acute intermittent porphyria in the Argentinean population

Cellular and molecular biology (Noisy-le-Grand, France), 2013-03, Vol.59 Suppl, p.OL1855

2013

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Acute intermittent porphyria: Biochemical and clinical analysis in the Argentinean population

Clinica chimica acta, 1999-10, Vol.288 (1), p.63-71

1999

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Acute porphyrias in the Argentinean population: a review

Cellular and molecular biology (Noisy-le-Grand, France), 2003-06, Vol.49 (4), p.493

2003

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The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies

Cellular and molecular biology (Noisy-le-Grand, France), 2009-02, Vol.55 (1), p.61

2009

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Diagnosis of latent acute intermittent porphyria by genetic analysis

Annals of clinical biochemistry, 2001-03, Vol.38 (Pt 2), p.149-152

2001

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Haplotype Study in Argentinean Variegate Porphyria Patients

Human heredity, 2015-01, Vol.80 (3), p.139-143

2015

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Porfirias poco frecuentes: Casos detectados en la población argentina Non frequent porphyrias in the argentinean population

Revista argentina de dermatología, 2006-12, Vol.87 (4), p.248-263

2006

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Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)

Human mutation, 2000-10, Vol.16 (4), p.373-373

2000

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Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria

Human mutation, 2000-12, Vol.16 (6), p.532-532

2000

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A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria

Human mutation, 2000-07, Vol.16 (1), p.96-96

2000

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Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T)

Human mutation, 1999-10, Vol.14 (4), p.355-355

1999

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The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population

Journal of the American Academy of Dermatology, 2005-03, Vol.52 (3), p.417-424

2005

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Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation

American journal of medical genetics, 1999-10, Vol.86 (4), p.366-375

1999

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Acquired and inherited porphyria: clinical and biochemical features

International journal of dermatology, 1982-04, Vol.21 (3), p.142-147

1982

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Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case reports in genetics, 2020, Vol.2020, p.8873219-8873219

2020

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In inherited porphyrias, lead intoxication is a toxogenetic disorder

International journal of biochemistry, 1987, Vol.19 (8), p.717-720

1987

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Acquired and Inherited Porphyria

International journal of dermatology, 1982-04, Vol.21 (3), p.142-147

1982

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Porphyrin biosynthesis. Immobilized enzymes and ligands. VII. Studies on bovine liver porphobilinogenase

Law and contemporary problems, 1976-01, Vol.26 (5), p.371-378

1976

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Pyrrylmethane intermediates in the synthesis of uroporphyrinogen 3 by soybean callus porphobilinogenase

Biochimica et biophysica acta, 1971-12, Vol.252 (3), p.481

1971

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Porphyrin biosynthesis and enzymatic studies in erythrocytes from normals and porphyric humans

International journal of biochemistry, 1980, Vol.12 (5-6), p.947-953

1980

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Porphyrin biosynthesis. Immobilized enzymes and ligands. VII. Studies on bovine liver porphobilinogenase

Acta physiologica latinoamericana, 1976, Vol.26 (5), p.371

1976

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Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Porfirias poco frecuentes: Casos detectados en la población argentina

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

An odd case of heteroallelic acute intermittent porphyria in the Argentinean population

Acute intermittent porphyria: Biochemical and clinical analysis in the Argentinean population

Acute porphyrias in the Argentinean population: a review

The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies

Diagnosis of latent acute intermittent porphyria by genetic analysis

Haplotype Study in Argentinean Variegate Porphyria Patients

Porfirias poco frecuentes: Casos detectados en la población argentina Non frequent porphyrias in the argentinean population

Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)

Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria

A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria

Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T)

The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population

Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation

Acquired and inherited porphyria: clinical and biochemical features

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

In inherited porphyrias, lead intoxication is a toxogenetic disorder

Acquired and Inherited Porphyria

Porphyrin biosynthesis. Immobilized enzymes and ligands. VII. Studies on bovine liver porphobilinogenase

Pyrrylmethane intermediates in the synthesis of uroporphyrinogen 3 by soybean callus porphobilinogenase

Porphyrin biosynthesis and enzymatic studies in erythrocytes from normals and porphyric humans

Porphyrin biosynthesis. Immobilized enzymes and ligands. VII. Studies on bovine liver porphobilinogenase

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