PMC Links for Books (Select 2999148) - PMC

Select item 62772881.

The Limb–Girdle Muscular Dystrophies: Is Treatment on the Horizon?

Mary Lynn Chu, Ellen Moran

Neurotherapeutics. 2018 Oct; 15(4): 849–862. Published online 2018 Jul 17. doi: 10.1007/s13311-018-0648-x

PMCID:: PMC6277288

Article PDF–498K

Select item 61824832.

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

So Yoon Choi, Ben Kang, Jae Young Choe, Yoon Lee, Hyo Jeong Jang, Hyung-Doo Park, Suk-Koo Lee, Yon Ho Choe

Pediatr Gastroenterol Hepatol Nutr. 2018 Oct; 21(4): 365–368. Published online 2018 Oct 10. doi: 10.5223/pghn.2018.21.4.365

PMCID:: PMC6182483

Article PDF–11M

Select item 61525573.

First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report

Robert Ivan Troisi, Yasser Mahmoud Elsheikh, Mohammad Ali Shagrani, Dieter Broering

Ann Saudi Med. 2014 Jul-Aug; 34(4): 354–357. doi: 10.5144/0256-4947.2014.354

PMCID:: PMC6152557

Article PDF–550K

Select item 61483234.

Branching Enzyme Deficiency: Expanding the Clinical Spectrum

Carmen Paradas, Hasan O. Akman, Carolina Ionete, Heather Lau, Peter N. Riskind, David E. Jones, Thomas W. Smith, Michio Hirano, Salvatore DiMauro

JAMA Neurol. Author manuscript; available in PMC 2018 Sep 21.

Published in final edited form as: JAMA Neurol. 2014 Jan; 71(1): 41–47. doi: 10.1001/jamaneurol.2013.4888

PMCID:: PMC6148323

Article PDF–1.3M

Select item 61406195.

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi

Mol Genet Metab Rep. 2018 Dec; 17: 31–37. Published online 2018 Sep 13. doi: 10.1016/j.ymgmr.2018.09.001

PMCID:: PMC6140619

Article PDF–1.1M

Select item 43299266.

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg, Hasan O. Akman, Mary Wallace, Frédéric Sedel, Pascal Laforêt, Richard Levy, J. Michael Powers, Sophie Demeret, Thierry Maisonobe, Roseline Froissart, Bruno Barcelos Da Nobrega, Brent L. Fogel, Marvin R. Natowicz, Catherine Lubetzki, Alexandra Durr, Alexis Brice, Hanna Rosenmann, Varda Barash, Or Kakhlon, J. Moshe Gomori, Marjo S. van der Knaap, Alexander Lossos

Ann Neurol. Author manuscript; available in PMC 2015 Feb 16.

Published in final edited form as: Ann Neurol. 2012 Sep; 72(3): 433–441. doi: 10.1002/ana.23598

PMCID:: PMC4329926

Article PDF–1.1M

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