Results 71 to 80 of about 9,468,531 (154)

P158: The diagnostic odyssey: A review of two patients with adult polyglucosan body disease

Genetics in Medicine Open, 2023
Anusha Ebrahim, Daniel Benavides, Camilo Toro, Colleen Wahl, William Gahl   +4 more
doaj   +1 more source

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

, 2016
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness.
Gitiaux, C., Barnerias, C., Oldfors, Anders,, Carlier, R. Y., Romero, N. B., Oldfors Hedberg, Carola,, Benezit, A., Quijano-Roy, S., Malfatti, E.   +8 more
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Identification of Therapeutic Targets in a Glycogen Storage Disease Type IV Mouse Model

, 2018
Adult polyglucosan body disease (APBD) is a neurological, adult-onset variant of glycogen storage disease type IV caused by mutations in the glycogen branching enzyme gene.
Chown, Erin
core   +1 more source

[P.D.F Download] Adult Congenital Heart Disease Full PDF Online

, 2020
Read Or Download Adult Congenital Heart Disease Full Books By by Carole A. Warnes (Editor) Read Online => Read Adult Congenital Heart Disease Download Book => Download Adult Congenital Heart Disease Adult Congenital Heart Disease pdf download Adult ...
[P.D.F Download] Adult Congenital Heart Disease Full PDF Online
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Mapping of Purkinje Neuron Loss and Polyglucosan Body Accumulation in Hereditary Cerebellar Degeneration in Scottish Terriers

, 2011
A hereditary cerebellar degenerative disorder has emerged in Scottish Terriers. The aims of this study were to describe and quantify polyglucosan body accumulation and quantify Purkinje neurons in the cerebellum of affected and control dogs.
A. de Lahunta, K. E. Linder, N. J. Olby, G. Urkasemsin, J. S. Bell   +4 more
core   +1 more source

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

Genetics in Medicine Open, 2023
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani   +18 more
doaj   +1 more source

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy

, 2017
International audienceWe recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the primingenzyme of glycogen synthesis.
Stojkovic, Tanya, Chanut, Anaïs, Madelaine, Angéline, François Petit, Angeline Madelaine, Laforêt, Pascal, Edoardo Malfatti, Romero, Norma,, Malfatti, Edoardo, Pascal Laforêt, Anaïs Chanut, Petit, François, M., Petit, François,, Romero, Norma, Beatriz, Tanya Stojkovic, Norma B. Romero   +15 more
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GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2) [PDF]

, 2018
An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs ...
Manole, A, schapira, A, Houlden, H, Quinlivan, R, Scalco, RS, Gardiner, A, Lachmann, R, Phadke, R, Holton, J, Desikan, M   +9 more
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[Multiple entrapments neuropathy in adult polyglucosan body disease].

Neurologia (Barcelona, Spain), 1995
Adult polyglucosan body disease (APBD) is a rare condition characterized by neuropathy, dementia, upper motor neuron dysfunction and neurogenic bladder. For diagnosis, the presence of polyglucosan bodies (PB), or PAS (+) glucose polymers, must be demonstrated.
E, Gil-Néciga, J A, Pareja, I, Chincón, S, Jarrín, P, Chaparro   +4 more
openaire   +1 more source

[Adult polyglucosan body disease: report of one case].

Neurologia (Barcelona, Spain), 2001
Adult polyglucosan body disease is a recently established clinicopathological entity, with few cases reported in the literature. In this paper we describe a case of a 46-year-old man who had died to a pancreatic cancer whose neuropathological study revealed a massive accumulation of polyglucosan bodies in the cerebral white matter, brainstem ...
A, Hernández, G, Céspedes, J, Pinto, M, Santana   +3 more
openaire   +1 more source