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Graphic arts --- Gaa, Carlos --- British Museum

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Egyptian language --- Egypt --- Nubia --- Antiquities --- History --- Egyptian language. --- Gaál, Ernő. --- Luft, Ulrich. --- Török, László, --- Antiquities. --- Festschrift - Libri Amicorum --- Afroasiatic languages --- Excavations (Archaeology) --- Gaál, Ernő. --- Török, László, --- Egypt - Antiquities --- Nubia - Antiquities --- Egypt - History - To 332 BC

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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Technology: general issues --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- n/a --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

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Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical–descriptive and formal–genetic to a molecular–genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.

Medicine --- Neurology & clinical neurophysiology --- Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot–Marie–Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics --- n/a --- Charcot-Marie-Tooth disease