Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Mucopolysaccharidosis. --- Mucopolysaccharides --- Lysosomes. --- Metabolism, Inborn errors of. --- Glycosaminoglycanes. --- Metabolism.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Mucopolysaccharidoses. --- Lysosomal storage diseases. --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Metabolism, Inborn errors of --- Mucopolysaccharidosis --- Carbohydrates --- Connective tissues --- Intellectual disability --- Lysosomal storage diseases --- Metabolism --- Disorders --- Diagnosis

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic options to affected patients. Therefore, the tight connection between basic science and clinical medicine represents the gold standard approach to these disorders. In this context, the present book collects a piece of current scientific advances in the knowledge of disease pathogenesis and in the development of novel diagnostic and therapeutic strategies for some of these diseases. Altogether, these articles define and recapitulate which essential steps are required during the clinical management of a rare inherited disorder and describe forthcoming advances and a breakthrough in the field of lysosomal diseases.

mucopolysaccharidosis IIIB --- quantitative proteomics --- NAGLU --- lysosomes --- Gaucher disease --- bone involvement --- enzyme replacement therapy --- substrate reduction therapy --- Osteoimmunology --- RANK/RANKL --- Osteopontin --- MIP-1β --- mucolipidosis II --- sortilin --- TGF-beta --- cathepsin D --- Fabry disease --- alpha-galactosidase A --- endocytosis --- lysosome --- IGF2R/M6P --- clathrin --- chloroquine --- lysosomal diseases --- precision medicine --- pharmacological chaperones --- gene therapy. --- Pompe disease --- lysosomal targeting --- autophagy --- gene therapy --- muscle --- satellite cells --- rhGAA --- glycogen --- lysosomal α-glucosidase --- GAA biomarker --- Gaucher Disease --- Wnt/β-catenin --- Dkk1 --- Wnt3a --- iPSC --- neuronopathy --- Krabbe disease --- Twitcher mouse --- psychosine --- visual system --- visual cortex --- astrogliosis --- mucopolysaccharidosis type I --- Hurler syndrome --- hematopoietic stem cell transplantations --- animal models --- experimental therapies --- axon guidance --- lysosomal storage disorders --- neuronal circuit --- α-galactosidase A --- A4GALT --- globotriaosylceramide (Gb3) --- globotriaosyl-sphingosine (lysoGb3) --- pharmacological chaperone therapy --- exosomes --- endocytic pathways --- neurodegenerative disease --- Parkinson disease --- lysosomal storage disorder --- viral vectors --- newborn screening --- variant interpretation --- second tier test --- tandem mass spectrometry --- lyso-Gb3 --- dried blood spot --- GLA gene --- globotriaosylsphingosine --- biomarkers

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

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 --- 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

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

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.

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