Associated Papers
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR et al.
Journal of Inherited Metabolic Disease, 2024
Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
Talati AN et al.
Prenatal Diagnosis, 2023
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E et al.
Archives of Medical Science : Ams, 2018
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Ravenscroft G et al.
Neuromuscular Disorders : Nmd, 2013
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
McHugh JC et al.
Muscle & Nerve, 2010
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
Fernandez C et al.
Muscle & Nerve, 2010
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