Výsledky vyhledávání - "Kenneth H. Astrin"

Akademický článek

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

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

Publikováno v: Revista Argentina de Anatomía Clínica, Vol 5, Iss 2 (2016)

La disección del cadáver embalsamado de una mujer de 66-años por los estudiantes de medicina de primer año de anatomía general, reveló la presencia de una arteria subclavia derecha aberrante (ASDA) de trayecto retroesofágico. La prevalencia de

Externí odkaz: https://doaj.org/article/ec88a96f1bff4accbfc163ea8ebb6951

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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 ABERRANTE

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

Publikováno v: Revista Argentina de Anatomía Clínica, Vol 5, Iss 2, Pp 80-87 (2013)
Revista Argentina de Anatomía Clínica, Vol 5, Iss 2 (2016)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b5939de79298dbd281082da9868b00
http://www.anatclinar.com.ar

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

Autor: Luis F. Cunha, Kenneth H. Astrin, Robert J. Desnick, David F. Bishop, Amr A. Shady, Brandon R. Colby

Publikováno v: British Journal of Haematology. 117:980-987

Summary. Mutations in the uroporphyrinogen III synthase (URO-synthase) gene cause congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of haem biosynthesis. Molecular analysis of the URO-synthase gene in seven unrelated CEP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::79fc962df76da96b25a3935a9c27f5e8
https://doi.org/10.1046/j.1365-2141.2002.03558.x

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

Autor: Karl E. Anderson, Marc J. Glucksman, Sylvia S. Bottomley, Kenneth H. Astrin, Luis F. Cunha, Robert J. Desnick, Risha B Ramdall, David R Katz

Publikováno v: Genetics in Medicine. 2:290-295

Purpose: To identify mutations in families with acute intermittent porphyria, an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane syntha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ccd8dc48a350eb76c6f61c477365da0
https://doi.org/10.1097/00125817-200009000-00004

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Uroporphyrinogen III Synthase

Autor: David F. Bishop, Robert J. Desnick, Gerardo I. Aizencang, Douglas Forrest, Kenneth H. Astrin

Publikováno v: Journal of Biological Chemistry. 275:2295-2304

Uroporphyrinogen III synthase (URO-synthase, EC 4.2.1.75) is the fourth enzyme of the heme biosynthetic pathway and is the defective enzyme in congenital erythropoietic porphyria. To investigate the erythroid-specific expression of murine URO-synthas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::562da6f00f71017798f0e994a005af62
https://doi.org/10.1074/jbc.275.4.2295

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Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease

Autor: Junaid Shabbeer, Kenneth H. Astrin, Robert J. Desnick, Ali K. Topaloglu, Bingzheng Tong, Grace A. Ashley, Christine M. Eng

Publikováno v: Molecular Medicine. 5:806-811

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase α-galactosidase A (EC 3.2.1.22; α-Gal A). The nature of the molecular lesions in the α-Gal A gene in 30

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a07934f3997c5b2b78bd234c6343e73
https://doi.org/10.1007/bf03401993

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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

Autor: Robert J. Desnick, A M del C Batlle, Victoria Estela Parera, Kenneth H. Astrin, I. A. Glass, A. De Siervi, Gerardo I. Aizencang, Maria Victoria Rossetti

Publikováno v: American Journal of Medical Genetics. 86:366-375

Acute intermittent porphyria (AIP), the most common hepatic porphyria, results from the half-normal activity of hydroxymethylbilane synthase (HMB-synthase; EC 4.3.1.8), the third enzyme in the heme biosynthetic pathway. Because life-threatening acute

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f1141081c8b63f6fd19f7223e1677724
https://doi.org/10.1002/(sici)1096-8628(19991008)86:4<366::aid-ajmg11>3.0.co

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Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation

Autor: Kenneth H. Astrin, Ilhan Tezcan, Murat Tuncer, Robert J. Desnick, Weiming Xu, Gerardo I. Aizencang, F. Ersoy, M. Cetin, C. Öner, A. Gurgey, S. Yetgin

Publikováno v: Blood. 92:4053-4058

The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a9c6e748e028be6e93e8894c02dbbeaf
https://doi.org/10.1182/blood.v92.11.4053

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