Congenital erythropoietic porphyria: advances in pathogenesis and treatment von Dsnick, Robert J., Astrin, Kenneth H.

Volltext

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria von Solis, C, Aizencang, G I, Astrin, K H, Bishop, D F, Desnick, R J

Volltext

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... von Chappell, Todd M, Panchani, Prakash N, Barksdale, James, Astrin, Kenneth H, DiLandro, Anthony C, D'Antoni, Anthony V

Volltext

Fabry disease: Renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes von GLASS, Ronald B. J, ASTRIN, Kenneth H, NORTON, Karen I, PARSONS, Rosaleen, ENG, Christine M, BANIKAZEMI, Maryam, DESNICK, Robert J

Volltext

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene von Shady, Amr A., Colby, Brandon R., Cunha, Luis F., Astrin, Kenneth H., Bishop, David F., Desnick, Robert J.

Volltext

Gene symbol: HMBS. Disease: Acute intermittent porphyria von Solis, C S, Lopez-Echaniz, Idoia, Sefarty-Graneda, David, Astrin, Kenneth H, Desnick, Robert J

Volltext

Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP) von Solis, C, Lopez-Echaniz, I, Sefarty-Graneda, D, Astrin, K H, Desnick, R J

Volltext

Therapies for Lysosomal Storage Diseases von Desnick, Robert J, Astrin, Kenneth H, Schuchman, Edward H

Volltext

Uroporphyrinogen III Synthase von Aizencang, Gerardo I., Bishop, David F., Forrest, Douglas, Astrin, Kenneth H., Desnick, Robert J.

Volltext

Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease von ENG, C. M, RESNICK-SILVERMAN, L. A, NIEHAUS, D. J, ASTRIN, K. H, DESNICK, R. J

Volltext

Two Brothers With Mild Congenital Erythropoietic Porphyria Due to a Novel Genotype von Berry, Ali A, Desnick, Robert J, Astrin, Kenneth H, Shabbeer, Junard, Lucky, Anne W, Lim, Henry W

Volltext

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease von Topaloglu, A K, Ashley, G A, Tong, B, Shabbeer, J, Astrin, K H, Eng, C M, Desnick, R J

Volltext

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles von Mendez, Manuel, Sorkin, Lonnie, Rossetti, Maria Victoria, Astrin, Kenneth H., Batlle, Alcira M. del C., Parera, Victoria E., Aizencang, Gerardo, Desnick, Robert J.

Volltext

Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene von Aizencang, G I, Bishop, D F, Forrest, D, Astrin, K H, Desnick, R J

Volltext

Molecular Genetics of Congenital Erythropoietic Porphyria von Desnick, Robert J., Glass, Ian A., Xu, Weiming, Solis, Constanza, Astrin, Kenneth H.

Volltext

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping... von Chen, C H, Astrin, K H, Lee, G, Anderson, K E, Desnick, R J

Volltext

Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome von Bishop, David F., Henderson, Ann S., Astrin, Kenneth H.

Volltext

Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene von Xu, Weiming, Astrin, Kenneth H., Desnick, Robert J.

Volltext

Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene von Astrin, Kenneth H., Desnick, Robert J.

Volltext

Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene von Ramdall, R B, Cunha, L, Astrin, K H, Katz, D R, Anderson, K E, Glucksman, M, Bottomley, S S, Desnick, R J

Volltext