Results 101 to 110 of about 8,964,539 (118)

A Novel Radiographic and Genetic Variant of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Case Report. [PDF]

Neurohospitalist
Nichol AA, Ngo AB, Alharthi M, Hird K, Owen M, Raefsky S, Yang JH.   +6 more
europepmc   +1 more source

Distinct features in adult polyglucosan body disease: a case series

Neuromuscular Disorders, 2023
: Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline.
Jonathan Baets, Willem de Ridder, Jonathan de Winter   +2 more
exaly   +2 more sources

Adult polyglucosan body disease in a patient originally diagnosed with Fabry’s disease

Neuromuscular Disorders, 2014
Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment.
Davide Pareyson, Ettore Salsano, Giacomo Comi   +2 more
exaly   +2 more sources

Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Neuromuscular Disorders, 2015
Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with
Francesca Magri, Ettore Salsano, Giacomo Comi   +2 more
exaly   +2 more sources

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

Journal of the American College of Nutrition, 2020
Objective: An anaplerotic diet with the odd-chain triglyceride (triheptanoin-C7TG) supplementation was tested as a therapy for Adult Polyglucosan Body Disease (APBD) and is currently being assessed for various metabolic disorders.
Simona Bertoli, Alessandro Leone, Ettore Salsano   +2 more
exaly   +2 more sources

Acute but transient neurological deterioration revealing adult polyglucosan body disease

Journal of the Neurological Sciences, 2013
Adult polyglucosan body disease (APBD) is a metabolic disorder usually caused by glycogen branching enzyme (GBE) deficiency. APBD associates progressive walking difficulties, bladder dysfunction and, in about 50% of the cases, cognitive decline.
Kristl Claeys, Monique Piraud, Pascal Laforêt   +2 more
exaly   +2 more sources

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

Muscle and Nerve, 2008
Adult polyglucosan body disease (APBD) is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems.
Roberto Massa, Alessandro Martorana, Claudio Bruno   +2 more
exaly   +2 more sources

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Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder

Hospital Practice (1995), 2022
Preet Varade
exaly  

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

Molecular Genetics and Metabolism, 2023
Deeksha Bali, Surekha Pendyal, Stephanie L Austin   +2 more
exaly  

Frequent misdiagnosis of adult polyglucosan body disease

Journal of Neurology, 2015
Vardiella Meiner, Or Kakhlon, Joab Chapman   +2 more
exaly