Lysosomal storage diseases

[1]  Rebecca C. Spillmann,et al.  Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? , 2018, Journal of Genetic Counseling.

[2]  R. Schiffmann,et al.  Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial , 2018, Orphanet Journal of Rare Diseases.

[3]  D. Ballon,et al.  Study of Intraventricular Cerliponase Alfa for CLN2 Disease , 2018, The New England journal of medicine.

[4]  Correction: Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study , 2018, Journal of Medical Genetics.

[5]  D. Rizopoulos,et al.  Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy , 2018, Journal of Inherited Metabolic Disease.

[6]  Ida Annunziata,et al.  Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases , 2018, Cell Death & Disease.

[7]  Dimitri Krainc,et al.  Mitochondria-lysosome contacts regulate mitochondrial fission via Rab7 GTP hydrolysis , 2018, Nature.

[8]  D. Ferrari,et al.  Neural Stem Cells and Human Induced Pluripotent Stem Cells to Model Rare CNS Diseases. , 2018, CNS & neurological disorders drug targets.

[9]  S. Jeon,et al.  Reversible Conformational Conversion of α-Synuclein into Toxic Assemblies by Glucosylceramide , 2018, Neuron.

[10]  K. Szymanska,et al.  Lamp1 Increases the Efficiency of Lassa Virus Infection by Promoting Fusion in Less Acidic Endosomal Compartments , 2018, mBio.

[11]  M. Germain,et al.  Mitochondria and Lysosomes: Discovering Bonds , 2017, Front. Cell Dev. Biol..

[12]  P. Mistry,et al.  Therapeutic position of eliglustat. , 2017, Blood cells, molecules & diseases.

[13]  M. Delgado-Rodríguez,et al.  Systematic review and meta-analysis. , 2017, Medicina intensiva.

[14]  Brian K. Kaspar,et al.  Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy , 2017, The New England journal of medicine.

[15]  Kimberly A. Walters,et al.  Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial , 2017, The Lancet.

[16]  R. Holzman,et al.  Anesthetic Management of Patients With Inborn Errors of Metabolism , 2017, Anesthesia and analgesia.

[17]  D. Rigante,et al.  Overview of immune abnormalities in lysosomal storage disorders. , 2017, Immunology letters.

[18]  G. Grabowski.  Overview of Inflammation in Neurometabolic Diseases. , 2017, Seminars in pediatric neurology.

[19]  B. Afroze,et al.  Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries , 2017, Pakistan journal of medical sciences.

[20]  Bryan C. Hall,et al.  Prolonged Expression of Secreted Enzymes in Dogs After Liver-Directed Delivery of Sleeping Beauty Transposons: Implications for Non-Viral Gene Therapy of Systemic Disease. , 2017, Human gene therapy.

[21]  B. Bembi,et al.  Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology , 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

[22]  C. Austin,et al.  Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK , 2017, Autophagy.

[23]  A. Markham,et al.  Cerliponase Alfa: First Global Approval , 2017, Drugs.

[24]  B. Lorenz,et al.  Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life , 2017, Ophthalmic genetics.

[25]  Simon C. Potter,et al.  Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease , 2017, Brain : a journal of neurology.

[26]  L. P. Van den Heuvel,et al.  Nephropathic cystinosis: an update. , 2017, Current opinion in pediatrics.

[27]  C. Hendriksz,et al.  Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment , 2017, BJPsych Bulletin.

[28]  J. Mink,et al.  Management Strategies for CLN2 Disease. , 2017, Pediatric neurology.

[29]  M. Gelb,et al.  Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs , 2017, International journal of neonatal screening.

[30]  Hao Yin,et al.  Delivery technologies for genome editing , 2017, Nature Reviews Drug Discovery.

[31]  W. Pijnappel,et al.  Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease , 2017, Molecular therapy. Nucleic acids.

[32]  anastasia. khvorova,et al.  The chemical evolution of oligonucleotide therapies of clinical utility , 2017, Nature Biotechnology.

[33]  Ciaran M. Lee,et al.  Genome editing for inborn errors of metabolism: advancing towards the clinic , 2017, BMC Medicine.

[34]  Lisa J. Martin,et al.  Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease , 2017, Nature.

[35]  W. Westbroek,et al.  The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease , 2017, Neuron.

[36]  D. Adams,et al.  Neurologic involvement in patients with atypical Chediak-Higashi disease , 2017, Neurology.

[37]  C. Futter,et al.  An Endosomal NAADP-Sensitive Two-Pore Ca2+ Channel Regulates ER-Endosome Membrane Contact Sites to Control Growth Factor Signaling , 2017, Cell reports.

[38]  David R Corey,et al.  Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy , 2017, Nature Neuroscience.

[39]  G. Lopez,et al.  Efferocytosis is impaired in Gaucher macrophages , 2016, Haematologica.

[40]  J. Bonifacino,et al.  Mechanisms and functions of lysosome positioning , 2016, Journal of Cell Science.

[41]  G. Besra,et al.  Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway , 2016, Wellcome open research.

[42]  D. Lockhart,et al.  Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study , 2016, Journal of Medical Genetics.

[43]  M. Cubellis,et al.  Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease , 2016, PloS one.

[44]  K. Keeling.  Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases , 2016, Diseases.

[45]  P. Larkin,et al.  Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS) , 2016, Orphanet Journal of Rare Diseases.

[46]  D. Begley,et al.  Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses , 2016, Science Translational Medicine.

[47]  D. A. Nita,et al.  Neuronal ceroid lipofuscinoses. , 2016, Epileptic disorders : international epilepsy journal with videotape.

[48]  D. Lockhart,et al.  Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. , 2016, The New England journal of medicine.

[49]  Zayd M. Khaliq,et al.  A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism , 2016, The Journal of Neuroscience.

[50]  A. Markham.  Migalastat: First Global Approval , 2016, Drugs.

[51]  R. Proia,et al.  The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy. , 2016, Pediatric endocrinology reviews : PER.

[52]  D. Leshkowitz,et al.  Induction of the type I interferon response in neurological forms of Gaucher disease , 2016, Journal of Neuroinflammation.

[53]  D. Adams,et al.  Neurologic involvement in patients with atypical Chediak-Higashi disease , 2016, Neurology.

[54]  W. Pardridge,et al.  Insulin Receptor Antibody-α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood-Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts. , 2016, Molecular pharmaceutics.

[55]  A. Broomfield,et al.  The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders , 2016, Journal of Inherited Metabolic Disease.

[56]  M. Stefani,et al.  Single molecule experiments emphasize GM1 as a key player of the different cytotoxicity of structurally distinct Aβ1-42 oligomers. , 2016, Biochimica et biophysica acta.

[57]  C. Heldermon,et al.  Preferred transduction with AAV8 and AAV9 via thalamic administration in the MPS IIIB model: A comparison of four rAAV serotypes , 2015, Molecular genetics and metabolism reports.

[58]  Sripriya Ravindra Kumar,et al.  Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain , 2015, Nature Biotechnology.

[59]  D. Finkelstein,et al.  Regulated lysosomal exocytosis mediates cancer progression , 2015, Science Advances.

[60]  R. Ravid,et al.  Alzheimer's disease is associated with disordered localization of ganglioside GM1 molecular species in the human dentate gyrus , 2015, FEBS letters.

[61]  Megan E Bosch,et al.  Neuroinflammatory paradigms in lysosomal storage diseases , 2015, Front. Neurosci..

[62]  J. Marugan,et al.  Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages , 2015, Aging cell.

[63]  Y. Doyon,et al.  In vivo genome editing of the albumin locus as a platform for protein replacement therapy. , 2015, Blood.

[64]  J. Cooper,et al.  Towards a new understanding of NCL pathogenesis. , 2015, Biochimica et biophysica acta.

[65]  A. Esterman,et al.  The supportive care needs of parents caring for a child with a rare disease: A scoping review. , 2015, Disability and health journal.

[66]  R. Ledeen,et al.  The multi-tasked life of GM1 ganglioside, a true factotum of nature. , 2015, Trends in biochemical sciences.

[67]  G. Andria,et al.  Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders. , 2015, Molecular therapy : the journal of the American Society of Gene Therapy.

[68]  C. Hollak,et al.  Quality of life in patients with Fabry disease: a systematic review of the literature , 2015, Orphanet Journal of Rare Diseases.

[69]  A. Ballabio,et al.  Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway , 2015, Autophagy.

[70]  J. Kurtzberg,et al.  Cord blood is the optimal graft source for the treatment of pediatric patients with lysosomal storage diseases: clinical outcomes and future directions. , 2015, Cytotherapy.

[71]  A. Ballabio,et al.  Lysosomal calcium regulates autophagy , 2015, Autophagy.

[72]  E. Sidransky,et al.  Applications of iPSC-derived models of Gaucher disease. , 2015, Annals of translational medicine.

[73]  K. Yanagisawa.  GM1 ganglioside and Alzheimer’s disease , 2015, Glycoconjugate Journal.

[74]  Ida Annunziata,et al.  Pathogenesis, emerging therapeutic targets and treatment in sialidosis , 2015, Expert opinion on orphan drugs.

[75]  E. Sidransky,et al.  New macrophage models of Gaucher disease offer new tools for drug development. , 2015, Macrophage.

[76]  T. Cox.  Innovative treatments for lysosomal diseases. , 2015, Best practice & research. Clinical endocrinology & metabolism.

[77]  A. Ballabio,et al.  Lysosomal storage diseases: from pathophysiology to therapy. , 2015, Annual review of medicine.

[78]  M. Poe,et al.  Early treatment is associated with improved cognition in Hurler syndrome , 2014, Annals of neurology.

[79]  N. Jetté,et al.  The prevalence of Parkinson's disease: A systematic review and meta‐analysis , 2014, Movement disorders : official journal of the Movement Disorder Society.

[80]  Davide Heller,et al.  STRING v10: protein–protein interaction networks, integrated over the tree of life , 2014, Nucleic Acids Res..

[81]  B. Wentworth,et al.  Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease , 2014, Molecular therapy. Nucleic acids.

[82]  P. Fitzpatrick,et al.  Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB , 2014, Proceedings of the National Academy of Sciences.

[83]  R. Poole.  Eliglustat: First Global Approval , 2014, Drugs.

[84]  D. Bedwell,et al.  Therapeutics based on stop codon readthrough. , 2014, Annual review of genomics and human genetics.

[85]  Ida Annunziata,et al.  Lysosomal multienzyme complex: pros and cons of working together , 2014, Cellular and Molecular Life Sciences.

[86]  A. Mehta,et al.  Gaucher disease: haematological presentations and complications , 2014, British journal of haematology.

[87]  Larissa A. Haliw,et al.  Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. , 2014, Human molecular genetics.

[88]  D. Werring,et al.  Cognitive dysfunction and depression in Fabry disease: a systematic review , 2014, Journal of Inherited Metabolic Disease.

[89]  M. Denti,et al.  Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases. , 2014, Nucleic acid therapeutics.

[90]  F. Platt,et al.  RIPK3 as a potential therapeutic target for Gaucher's disease , 2014, Nature Medicine.

[91]  R. Nixon,et al.  Lysosomal NEU1 deficiency affects Amyloid Precursor Protein levels and amyloid-β secretion via deregulated lysosomal exocytosis , 2013, Nature Communications.

[92]  P. Popoli,et al.  The Stimulation of Adenosine A2A Receptors Ameliorates the Pathological Phenotype of Fibroblasts from Niemann-Pick Type C Patients , 2013, The Journal of Neuroscience.

[93]  G. Porreca,et al.  Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening , 2013, Molecular genetics & genomic medicine.

[94]  C. von Kalle,et al.  Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy , 2013, Science.

[95]  C. Hollak,et al.  A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance , 2013, Journal of Medical Genetics.

[96]  A. Fischer,et al.  Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. , 2013, Blood.

[97]  Francesco S Pavone,et al.  Partitioning and confinement of GM1 ganglioside induced by amyloid aggregates , 2013, FEBS letters.

[98]  Andrea Ballabio,et al.  Signals from the lysosome: a control centre for cellular clearance and energy metabolism , 2013, Nature Reviews Molecular Cell Biology.

[99]  J. Garin,et al.  An Extended Proteome Map of the Lysosomal Membrane Reveals Novel Potential Transporters* , 2013, Molecular & Cellular Proteomics.

[100]  G. Grabowski.  Gaucher disease and other storage disorders. , 2012, Hematology. American Society of Hematology. Education Program.

[101]  Ellen Sidransky,et al.  The link between the GBA gene and parkinsonism , 2012, The Lancet Neurology.

[102]  Elias T. Zambidis,et al.  Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease , 2012, Proceedings of the National Academy of Sciences.

[103]  Y. Chien,et al.  Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat , 2012, Orphanet Journal of Rare Diseases.

[104]  Christopher P Austin,et al.  δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders* , 2012, The Journal of Biological Chemistry.

[105]  F. Sedel,et al.  Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. , 2012, Molecular genetics and metabolism.

[106]  I. Biton,et al.  Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. , 2012, Brain : a journal of neurology.

[107]  E. Mohammadi,et al.  Barriers and facilitators related to the implementation of a physiological track and trigger system: A systematic review of the qualitative evidence , 2017, International journal for quality in health care : journal of the International Society for Quality in Health Care.

[108]  F. Eichler,et al.  Natural History of Infantile GM2 Gangliosidosis , 2011, Pediatrics.

[109]  A. Ballabio,et al.  Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. , 2011, Human molecular genetics.

[110]  A. Futerman,et al.  Animal models for Gaucher disease research , 2011, Disease Models & Mechanisms.

[111]  A. Zimran.  How I treat Gaucher disease. , 2011, Blood.

[112]  J. Mendell,et al.  Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders , 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

[113]  J. Dye,et al.  Ebola virus entry requires the cholesterol transporter Niemann-Pick C1 , 2011, Nature.

[114]  A. Quittner,et al.  Anxiety, depression, and life satisfaction in parents caring for children with cystic fibrosis , 2011, Pediatric pulmonology.

[115]  Ying Sun,et al.  Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies , 2011, Cell.

[116]  Ying Sun,et al.  Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing , 2011, Annals of neurology.

[117]  T. Kirkegaard,et al.  HSP70 and lysosomal storage disorders: novel therapeutic opportunities. , 2010, Biochemical Society transactions.

[118]  Jennifer S. Li,et al.  Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease , 2010, Dysphagia.

[119]  Y. Ioannou,et al.  Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis , 2010, PloS one.

[120]  T. Cox.  Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. , 2010, Current opinion in investigational drugs.

[121]  J. E. Wraith,et al.  Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience , 2010, Journal of Inherited Metabolic Disease.

[122]  Shayman Ja.  ELIGLUSTAT TARTRATE: Glucosylceramide Synthase Inhibitor Treatment of Type 1 Gaucher Disease. , 2010 .

[123]  E. Zanoteli,et al.  Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue. , 2010, Biochimica et biophysica acta.

[124]  D. Revicki,et al.  Quality of life information and trust in physicians among families of children with life-limiting conditions , 2010, Patient related outcome measures.

[125]  D. de Lore,et al.  Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study , 2010, Clinical genetics.

[126]  M. Scarpa,et al.  Pathophysiology of neuropathic lysosomal storage disorders , 2010, Journal of Inherited Metabolic Disease.

[127]  F. Platt,et al.  Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases* , 2010, The Journal of Biological Chemistry.

[128]  J. Bae,et al.  Bone Marrow‐Derived Mesenchymal Stem Cells Prevent the Loss of Niemann‐Pick Type C Mouse Purkinje Neurons by Correcting Sphingolipid Metabolism and Increasing Sphingosine‐1‐phosphate , 2010, Stem cells.

[129]  T. Ren,et al.  Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice. , 2010, Biochimica et biophysica acta.

[130]  J. Krise,et al.  Niemann-Pick C1 Functions Independently of Niemann-Pick C2 in the Initial Stage of Retrograde Transport of Membrane-impermeable Lysosomal Cargo* , 2009, The Journal of Biological Chemistry.

[131]  J. Opferman,et al.  GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. , 2009, Molecular cell.

[132]  F. Platt,et al.  Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1 , 2009, Neurobiology of Disease.

[133]  M. Nalls,et al.  Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. , 2009, The New England journal of medicine.

[134]  D. Ory,et al.  Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression , 2009, PloS one.

[135]  B. Bembi,et al.  Miglustat (Zavesca®) in type 1 Gaucher disease: 5‐year results of a post‐authorisation safety surveillance programme , 2009, Pharmacoepidemiology and drug safety.

[136]  Caifeng Zhao,et al.  Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology* , 2009, Molecular & Cellular Proteomics.

[137]  A. Ballabio,et al.  Lysosomal disorders: from storage to cellular damage. , 2009, Biochimica et biophysica acta.

[138]  B. Byrne,et al.  Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease , 2009, Genetics in Medicine.

[139]  A. Galione,et al.  Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium , 2008, Nature Medicine.

[140]  W. Gahl,et al.  Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. , 2008, Annual review of genomics and human genetics.

[141]  A. d’Azzo,et al.  Neuraminidase 1 is a negative regulator of lysosomal exocytosis. , 2008, Developmental cell.

[142]  M. Patterson,et al.  111. Miglustat in Niemann-Pick disease type C (NPC) , 2008 .

[143]  M. Mann,et al.  Integral and Associated Lysosomal Membrane Proteins , 2007, Traffic.

[144]  S. Karlsson,et al.  Murine models of acute neuronopathic Gaucher disease , 2007, Proceedings of the National Academy of Sciences.

[145]  M. Patterson,et al.  Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study , 2007, The Lancet Neurology.

[146]  G. Tell,et al.  Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress , 2007, Journal of cellular physiology.

[147]  B. Byrne,et al.  Recombinant human acid α-glucosidase , 2007, Neurology.

[148]  R. Ledeen,et al.  GM1 ganglioside: another nuclear lipid that modulates nuclear calcium. GM1 potentiates the nuclear sodium-calcium exchanger. , 2006, Canadian journal of physiology and pharmacology.

[149]  L. Kalaydjieva,et al.  Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population. , 2006, Molecular genetics and metabolism.

[150]  Wuh-Liang Hwu,et al.  A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. , 2006, The Journal of pediatrics.

[151]  Mario Maas,et al.  Substrate reduction therapy of glycosphingolipid storage disorders , 2006, Journal of Inherited Metabolic Disease.

[152]  A. Tessitore,et al.  Gangliosides as apoptotic signals in ER stress response , 2006, Cell Death and Differentiation.

[153]  C. Zaroff,et al.  Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients , 2005, Genetics in Medicine.

[154]  R. Dwek,et al.  NSAIDs increase survival in the Sandhoff disease mouse: Synergy with N‐butyldeoxynojirimycin , 2004, Annals of neurology.

[155]  D. Steindler,et al.  GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. , 2004, Molecular cell.

[156]  J. Allman,et al.  Neuropathology provides clues to the pathophysiology of Gaucher disease. , 2004, Molecular genetics and metabolism.

[157]  D. Sillence,et al.  alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. , 2004, Journal of molecular biology.

[158]  I. Aoki,et al.  Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses. , 2004, The Journal of clinical investigation.

[159]  M. Vanier.  Niemann-Pick disease type C , 2010, Orphanet journal of rare diseases.

[160]  R. Lachmann.  Miglustat. Oxford GlycoSciences/Actelion. , 2003, Current opinion in investigational drugs.

[161]  David A. Smith,et al.  Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. , 2003, Brain : a journal of neurology.

[162]  W. Stoorvogel,et al.  Lysosome-related organelles: a view from immunity and pigmentation. , 2002, Cell structure and function.

[163]  A. d’Azzo,et al.  Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. , 2002, Human molecular genetics.

[164]  C. Antignac,et al.  Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. , 2001, Journal of the American Society of Nephrology : JASN.

[165]  Y. Ioannou.  Multidrug permeases and subcellular cholesterol transport , 2001, Nature Reviews Molecular Cell Biology.

[166]  D. Krasnewich,et al.  Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. , 2001, Molecular genetics and metabolism.

[167]  E. Caler,et al.  Plasma Membrane Repair Is Mediated by Ca2+-Regulated Exocytosis of Lysosomes , 2001, Cell.

[168]  S. McCandless,et al.  Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century. , 2001, American journal of medical genetics.

[169]  T. Cox.  Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses , 2001, Journal of Inherited Metabolic Disease.

[170]  R. Lachmann,et al.  Substrate reduction therapy for glycosphingolipid storage disorders , 2001, Expert opinion on investigational drugs.

[171]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[172]  Y. Ioannou,et al.  Transmembrane molecular pump activity of Niemann-Pick C1 protein. , 2000, Science.

[173]  L. Peltonen,et al.  The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. , 2000, American journal of human genetics.

[174]  R. Proia,et al.  Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[175]  R. Dwek,et al.  Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis , 2000, The Lancet.

[176]  I. Martins,et al.  Recombinant adeno-associated virus type 2, 4, and 5 vectors: transduction of variant cell types and regions in the mammalian central nervous system. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[177]  L. Liscum.  Niemann–Pick Type C Mutations Cause Lipid Traffic Jam , 2000, Traffic.

[178]  N. Aronson,et al.  Aspartylglycosaminuria: biochemistry and molecular biology. , 1999, Biochimica et biophysica acta.

[179]  M. Kroos,et al.  Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling , 1999, European Journal of Human Genetics.

[180]  P. Meikle,et al.  Prevalence of lysosomal storage disorders. , 1999, JAMA.

[181]  B. Davidson,et al.  Gene therapy for lysosomal storage diseases. , 1998, Molecular therapy : the journal of the American Society of Gene Therapy.

[182]  M. Dobson,et al.  The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. , 1998, American journal of human genetics.

[183]  M. Schröder,et al.  Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. , 1997, Human molecular genetics.

[184]  T. Cox.  The metabolic and molecular bases of inherited disease: Vols I, II and III (7th edn): edited by Charles R. Scriver, Arthur L. Beaudet, William S. Sly and David Valle McGraw-Hill, 1995, £195.00 hbk (4605 pages) ISBN 0 07 909826 6 , 1996 .

[185]  P. Guldberg,et al.  Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling. , 1996, Journal of medical genetics.

[186]  Y. Ihara,et al.  GM1 ganglioside–bound amyloid β–protein (Aβ): A possible form of preamyloid in Alzheimer's disease , 1995, Nature Medicine.

[187]  R. Dwek,et al.  N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. , 1994, The Journal of biological chemistry.

[188]  M. Kaback,et al.  Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. , 1993, JAMA.

[189]  M. Kaback,et al.  Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era: An International Perspective, 1970 to 1993 , 1993 .

[190]  M. Horowitz,et al.  Abnormal neutrophil chemotaxis in Gaucher disease , 1993, British journal of haematology.

[191]  C. Witkop,et al.  Hermansky-Pudlak syndrome (HPS). An epidemiologic study. , 1990, Ophthalmic paediatrics and genetics.

[192]  C. Summers,et al.  Albinism and Hermansky-Pudlak syndrome in Puerto Rico. , 1990, Boletin de la Asociacion Medica de Puerto Rico.

[193]  Jerry R. Hobbs,et al.  REVERSAL OF CLINICAL FEATURES OF HURLER'S DISEASE AND BIOCHEMICAL IMPROVEMENT AFTER TREATMENT BY BONE-MARROW TRANSPLANTATION , 1981, The Lancet.

[194]  E. Beutler.  Gaucher's disease. , 1980, The New England journal of medicine.

[195]  Y. Beyth,et al.  ALPHA-FETOPROTEIN DURING MID-TRIMESTER INDUCED ABORTION , 1975, The Lancet.

[196]  Stephen H. Bell,et al.  A ?scoping review. , 2018, Sexual health.

[197]  P. Maison-Blanche,et al.  Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. , 2017, European journal of internal medicine.

[198]  R. Schiffmann,et al.  Gaucher disease: Progress and ongoing challenges. , 2017, Molecular genetics and metabolism.

[199]  M. Kaback,et al.  Carrier Screening, Prenatal Diagnosis, and the Molecular Era , 2017 .

[200]  K. Lyseng-Williamson.  Miglustat: A Review of Its Use in Niemann-Pick Disease Type C , 2013, Drugs.

[201]  I. Petrache,et al.  Sphingolipids in Disease , 2013, Handbook of Experimental Pharmacology.

[202]  A. Futerman,et al.  Neuronal forms of Gaucher disease. , 2013, Handbook of experimental pharmacology.

[203]  J. Shayman,et al.  ELIGLUSTAT TARTRATE: Glucosylceramide Synthase Inhibitor Treatment of Type 1 Gaucher Disease. , 2010, Drugs of the future.

[204]  K. Foust,et al.  Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes , 2009, Nature Biotechnology.

[205]  N. Schor.  Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease , 2008 .

[206]  A. Mehta,et al.  Enzyme replacement therapy – a brief history -- Fabry Disease: Perspectives from 5 Years of FOS , 2006 .

[207]  A. Mehta,et al.  Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease -- Fabry Disease: Perspectives from 5 Years of FOS , 2006 .

[208]  J. Trojanowski,et al.  Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease , 2004, Acta Neuropathologica.

[209]  L. W. Seidman.  THE CONTRIBUTION OF , 2004 .

[210]  F. Cosset,et al.  Targeting retroviral and lentiviral vectors. , 2003, Current topics in microbiology and immunology.

[211]  S. Gabriel,et al.  Systematic Review of the Literature , 2021, Adherence to Antiretroviral Therapy among Perinatal Women in Guyana.

[212]  P. Huxley,et al.  A UK experience. , 1998, Canadian journal of community mental health = Revue canadienne de sante mentale communautaire.

[213]  N. Rushton,et al.  Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. , 1997, QJM : monthly journal of the Association of Physicians.

[214]  K. Suzuki.  Enzymatic diagnosis of sphingolipidoses. , 1987, Methods in enzymology.

[215]  K. Johnson.  An Update. , 1984, Journal of food protection.

[216]  W. Sly,et al.  Receptor-mediated uptake of lysosomal enzymes. , 1978, Progress in clinical and biological research.

[217]  K. Suzuki.  Enzymic diagnosis of sphingolipidoses. , 1978, Methods in enzymology.

[218]  David M. Kramer,et al.  Biochemistry and Molecular Biology , 1968, Nature.