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Congenital erythropoietic porphyria: advances in pathogenesis and treatment

British journal of haematology, 2002-06, Vol.117 (4), p.779-795

2002

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Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

The Journal of clinical investigation, 2001-03, Vol.107 (6), p.753-762

2001

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IN THE GROSS ANATOMY LABORATORY: A REVIEW OF THE EMBRYOLOGY AND MOLECULAR GENETICS OF THE ABERRANT RIGHT SUBCLAVIAN ARTERY. En el laboratorio de Anatomía macroscópica: Revisión de la embriología y genética molecular de la arteria subclavia derecha aberra

Revista Argentina de anatomía clínica, 2016-03, Vol.5 (2), p.80-87

2016

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Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes

Journal of computer assisted tomography, 2004-03, Vol.28 (2), p.158-168

2004

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Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

British journal of haematology, 2002-06, Vol.117 (4), p.980-987

2002

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Gene symbol: HMBS. Disease: Acute intermittent porphyria

Human genetics, 2004-03, Vol.114 (4), p.402-402

2004

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Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP)

Molecular medicine (Cambridge, Mass.), 1999-10, Vol.5 (10), p.664-671

1999

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Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias

Archives of neurology (Chicago), 2004-11, Vol.61 (11), p.1764

2004

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Therapies for Lysosomal Storage Diseases

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, 2019, p.205-227

Seventh Edition, 2019

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Uroporphyrinogen III Synthase

The Journal of biological chemistry, 2000-01, Vol.275 (4), p.2295-2304

2000

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Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease

American journal of human genetics, 1993-12, Vol.53 (6), p.1186-1197

1993

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Two brothers with mild congenital erythropoietic porphyria due to a novel genotype

Archives of dermatology (1960), 2005-12, Vol.141 (12), p.1575

2005

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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

Molecular medicine (Cambridge, Mass.), 1999-12, Vol.5 (12), p.806-811

1999

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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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Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene

The Journal of biological chemistry, 2000-01, Vol.275 (4), p.2295-2304

2000

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Molecular Genetics of Congenital Erythropoietic Porphyria

Seminars in liver disease, 1998, Vol.18 (1), p.77-84

1998

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Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme

The Journal of clinical investigation, 1994-11, Vol.94 (5), p.1927-1937

1994

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Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

Genomics (San Diego, Calif.), 1990-06, Vol.7 (2), p.207-214

1990

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Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene

Human mutation, 1996, Vol.7 (3), p.187-192

1996

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Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene

Human mutation, 1994, Vol.4 (4), p.243-252

1994

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Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene

Genetics in medicine, 2000-09, Vol.2 (5), p.290-295

2000

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Acute intermittent porphyria: A single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide

American journal of medical genetics, 1995-08, Vol.58 (2), p.155-158

1995

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Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-glactosidase A

Genomics (San Diego, Calif.), 1992, Vol.13 (1), p.70-74

1992

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Light Chains of Rabbit Immunoglobulin: Assignment to the Kappa Class

Science (American Association for the Advancement of Science), 1967-06, Vol.156 (3783), p.1755-1757

1967

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

Human genetics, 1991-05, Vol.87 (1), p.18-22

1991

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Congenital erythropoietic porphyria: advances in pathogenesis and treatment

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

IN THE GROSS ANATOMY LABORATORY: A REVIEW OF THE EMBRYOLOGY AND MOLECULAR GENETICS OF THE ABERRANT RIGHT SUBCLAVIAN ARTERY. En el laboratorio de Anatomía macroscópica: Revisión de la embriología y genética molecular de la arteria subclavia derecha aberra

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

Gene symbol: HMBS. Disease: Acute intermittent porphyria

Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP)

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias

Therapies for Lysosomal Storage Diseases

Uroporphyrinogen III Synthase

Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

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

Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene

Molecular Genetics of Congenital Erythropoietic Porphyria

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme

Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene

Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene

Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene

Acute intermittent porphyria: A single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-glactosidase A

Light Chains of Rabbit Immunoglobulin: Assignment to the Kappa Class

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

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