Results 41 to 50 of about 13,856,572 (229)

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV [PDF]

Journal of Perinatology, 2012
A total of 11 types of glycogen storage disorders have been recognized with variable clinical presentations. Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. We report on a patient with early fetal onset of symptoms with severe neuromuscular findings at birth.
L F, Escobar, S, Wagner, M, Tucker, J, Wareham   +3 more
openaire   +2 more sources

Liver transplantation for glycogen storage disease types I, III, and IV [PDF]

European Journal of Pediatrics, 1999
Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation. Early diagnosis and initiation of effective dietary therapy have dramatically improved the outcome of GSD type I by ...
Matern, D, Starzl, TE, Arnaout, W, Barnard, J, Bynon, JS, Dhawan, A, Emond, J, Haagsma, EB, Hug, G, Lachaux, A, Smit, GPA, Chen, YT   +11 more
openaire   +3 more sources

Glycogen storage disease type I (GSD I) [PDF]

, 2012
Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes ...
Mollet, Boudjemline A, Petit, F, Trioche, Eberschweiler P, Gajdos, V, Labrune, P, Hubert, Buron A   +5 more
core   +1 more source

Evidence of Cardiomyocyte Necrosis in Glycogen Storage Disease type-II

, 2007
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac
Lawson, G. J., Collinson, P.O., Gaze, D.C., Harris, A.   +3 more
core   +1 more source

Glycogen Storage Disease Type Ib: The First Case in Taiwan

, 2011
Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6- phosphatase, was the ...
HSIAO, HUI-JU;CHANG, HSIU-HAO;HWU, WUH-LIANG;LAM, CHING-WAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU, 蕭惠如;張修豪;胡務亮;林青雲;李妮鍾;簡穎秀   +1 more
core   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
core   +1 more source

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

Annals of Saudi Medicine, 2014
Living donor liver transplantation (LDLT) is a well-established treatment modality for several pediatric end-stage liver diseases owning excellent long-term results.
Robert Ivan Troisi, Yasser Mahmoud Elsheikh, Mohammad Ali Shagrani, Dieter Broering   +3 more
doaj   +1 more source

MASH Background Confers Enhanced Disease Susceptibility and Acetaminophen Toxicity in iPSC‐Derived Liver Organoids

Advanced Science, EarlyView.
This work establishes a novel method for generating multicellular liver organoids from control and MASH donor iPSCs. The model recapitulates several disease‐specific characteristics, with MASH donor‐derived organoids showing higher susceptibility. Lipidomic profiling of MASH organoids closely resembles MASH liver biopsies.
Ekta Minocha, Ashwani Kumar Gupta, Nate Schmidt, Richard M. Green, John G. Purdy, Jason A. Wertheim   +5 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Data in Brief
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching.
Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari   +6 more
doaj   +1 more source