Results 21 to 30 of about 13,856,572 (229)

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3 [PDF]

Case Reports in Genetics
Uniparental disomy (UPD), the inheritance of two copies of a chromosome from one parent, can lead to recessive genetic disorders or imprinting effects. We report a case of autosomal recessive glycogen storage disease type 4 (GSD IV) due to maternal UPD ...
Sigrid Skovby Olsen, Anja Ernst, Pia Sønderby Christensen, Ellen Dagmar Björnsdóttir, Lasse Ringsted Mark, Albert Vejlin Stefansen, Allan Thomas Højland   +6 more
doaj   +2 more sources

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

European Journal of Pediatrics, 2002
Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each
Ullrich, K, Smit, GPA, Rake, JP, Visser, G, Labrune, P, Leonard, JV, Wendel, U, Moses, S   +7 more
core   +2 more sources

Null mutations and lethal congenital form of glycogen storage disease type IV [PDF]

Biochemical and Biophysical Research Communications, 2007
Glycogen branching enzyme deficiency (glycogen storage disease type IV, GSD-IV) is a rare autosomal recessive disorder of the glycogen synthesis with high mortality. Two female newborns showed severe hypotonia at birth and both died of cardiorespiratory failure, at 4 and 12 weeks, respectively.
ASSERETO S, VAN DIGGELEN OP, DIOGO L, MORAVA E, CASSANDRINI D, CARREIRA I, DE BOODE WP, DILLING J, GARCIA P, HENRIQUES M, REBELO O, TER LAAK H, MINETTI, CARLO, BRUNO C.   +13 more
openaire   +5 more sources

Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum [PDF]

Case Reports in Medicine, 2012
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems.
Tolga Aksu, Ayse Colak, Omac Tufekcioglu
doaj   +2 more sources

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV [PDF]

JIMD Rep, 2018
Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points.
Tavleen, Sandhu, Michelle, Polan, Zhongxin, Yu, Rufei, Lu, Abhishek, Makkar   +4 more
openaire   +3 more sources

Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation [PDF]

Gut and Liver, 2009
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues.
박영년, 정기섭, 고홍
doaj   +2 more sources

Guidelines for management of glycogen storage disease type I - European study on glycogen storage disease type I (ESGSD I)

European Journal of Pediatrics, 2002
Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is
Ullrich, K, Smit, GPA, Rake, JP, Visser, G, Labrune, P, Leonard, JV   +5 more
core   +3 more sources

Genome Editing for Glycogen Storage Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT Gene therapy has been developed for several glycogen storage diseases and has advanced into clinical trials. However, the limitations of these gene therapies with regard to stability following treatment early in life have led to the development of genome editing.
von Beck T, Wang R, Koeberl D.
europepmc   +2 more sources

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group [PDF]

, 2021
Supplementary material is available online at https://www.sciencedirect.com/science/article/pii/S0960896621006878#sec0054 .Highlights: • Management of physical activity intolerance in GSD V and GSD VII is nuanced and impacts activities of daily living (
Løkken, N, Nogales-Gadea, G, Martinuzzi, A, Godfrey, R, Santalla, A, Toscano, A, Lucia, A, Tarnopolsky, M, Reason, S, Kishnani, P, Quinlivan, R, Musumeci, O, Bali, D, Laforêt, P, Haller, R, Voermans, N, Vissing, J, Wakelin, A   +17 more
core   +2 more sources

An uncommon cause of early infantile liver disease and raised chitotriosidase

JIMD Reports, 2020
Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase
Srividya Sreekantam, Hina Rizvi, Rachel Brown, Saikat Santra, Julian Raiman, Suresh Vijay, Patrick J. Mckiernan, Girish L. Gupte   +7 more
doaj   +1 more source