Zobrazeno 1 - 10
of 193
pro vyhledávání: '"Erik Harms"'
Autor:
Christina van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, Jürgen Grebe, Janine Reunert, Erik Harms, Thorsten Marquardt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function. A lifelong therapy with the aminothiol cysteamine can delay the development
Externí odkaz:
https://doaj.org/article/ddffc458daa14fa99fefae8128571e38
Autor:
Sabrina Klank, Christina van Stein, Marianne Grüneberg, Chris Ottolenghi, Kerstin K. Rauwolf, Jürgen Grebe, Janine Reunert, Erik Harms, Thorsten Marquardt
Publikováno v:
Pharmaceutics, Vol 15, Iss 7, p 1851 (2023)
Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter, it can exit from
Externí odkaz:
https://doaj.org/article/859fc65246174d6086cf631b3dd3dd5a
Autor:
Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller-Felber
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective w
Externí odkaz:
https://doaj.org/article/ee690e0ce35a4f75a8b638173e003c07
Autor:
Simone Linden, Sabrina Klank, Erik Harms, Marianne Grüneberg, Julien H. Park, Thorsten Marquardt
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100620- (2020)
Background: Cystinosis is a metabolic disease caused by intracellular accumulation of cystine within lysosomes. Development of symptoms can be delayed significantly by a life-long therapy with cysteamine, a drug that enters the lysosome and reacts wi
Externí odkaz:
https://doaj.org/article/5f6ab042ba6a426f83db04a143bb4dd6
Autor:
Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far. Methods: This prospective pilot study was performed within the Germ
Externí odkaz:
https://doaj.org/article/7b81688622b649f0976083200101c04d
Autor:
Erik Harms
A free ebook version of this title is available through Luminos, University of California Press's Open Access publishing program for monographs. Visit www.luminosoa.org to learn more.Luxury and Rubble is the tale of two cities in Ho Chi Minh City. It
Autor:
Erik Harms
Publikováno v:
EchoGéo, Vol 52
Photographic images from Ho Chi Minh City’s Thủ Thiêm Peninsula draw attention to now-vanished trees and pathways from a place that has been demolished for the sake of urban expansion. The trees and pathways in these photographs evoke an aspect
Externí odkaz:
https://doaj.org/article/1b2ab488a06c4156b74e6e131756c394
Autor:
Erik Harms
Publikováno v:
Asia Pacific Viewpoint. 63:320-336
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45b4795427e7ae3e677929f9869cd3bf
https://doi.org/10.1111/apv.12360
https://doi.org/10.1111/apv.12360
Autor:
Marquardt, Sabrina Klank, Christina van Stein, Marianne Grüneberg, Chris Ottolenghi, Kerstin K. Rauwolf, Jürgen Grebe, Janine Reunert, Erik Harms, Thorsten
Publikováno v:
Pharmaceutics; Volume 15; Issue 7; Pages: 1851
Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter, it can exit from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::336cefc1ad8ac133b5485c200ec3d04c
Autor:
Erik Harms
Publikováno v:
Public Anthropologist. 3:210-231
While teaching lecture courses at the University of California, Berkeley, Laura Nader taught generations of students to raise their anthropological antennae. This article uses an autoethnographic approach to describe the author’s exposure to anthro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::226787fe529b8163af002a4916dc615f
https://doi.org/10.1163/25891715-bja10024
https://doi.org/10.1163/25891715-bja10024