Welcome to Reference Page of RareLSD

This page provides the information about the research articles from which data has been retrieved for the entries of the RareLSD.

Title PMID
Prevalence of lysosomal storage diseases in Portugal 14685153
Burden of Lysosomal Storage Disorders in India:Experience of 387 Affected Children from a Single Diagnostic Facility 23852624
Spectrum of Lysosomal Storage Disorders at a Medical Genetics Center in Northern India 22791670
The human brain mannose 6-phosphate glycoproteome: A complex mixture composed of multiple isoforms of many soluble lysosomal proteins 15789345
The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo 10092649
Lysosomal storage diseases - The horizon expands 23938739
Fucosidosis: MRI and MRS findings 26515723
Fucosidosis: genetic and biochemical analysis of eight cases 9039984
Spectrum of Mutations in a-Mannosidosis 9915946
Fucosidosis: Deficiency od Alpha-I-Fucosidase in Cultued Skin Fibroblasts 4624449
Elevated globotriaosylsphingosine is a hallmark of Fabry disease 18287059
Proteomics of the Lysosome 18977398
Fabry disease 28674962
Niemann–Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding 22065762
Enzymatic Activity of α-L-Fucosidase and L-Fucokinase Across Vertebrate Animal Species 19394435
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease 23935525
Neurologic involvement in patients with atypical Chediak-Higashi disease 28193763
Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype 28649523
Spectrum of Lysosomal Storage Disorders at a Medical Genetics Center in Northern India 22791670
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory 28304074
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase 2848800
The frequency of lysosomal storage diseases in The Netherlands 10480370
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening 16773563
A database for inborn errors of metabolism in the Indian state of Andhra Pradesh 20978599
Marking 15 years of the Genetic and Rare Diseases Information Center 29152459
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene 30118150
Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management 28590232
The natural history of MPS I: global perspectives from the MPS I Registry 24675674
Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders 30306082
The discovery of medicines for rare diseases 25068983
Impact of pregnancy on inborn errors of metabolism 30198059
Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population 22074387
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation 27317439
Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management 28590232
Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management 28590232
Mutations in TMEM76* Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) 17033958
Ocular features in mucopolysaccharidosis: diagnosis and treatment 30442167
Urinary Glycosaminoglycan Estimation as a Routine Clinical Service 260896157
A review of skeletal dysplasia research in India 296924017
Cardiac manifestations in mucopolysaccharoidosis 271333367
Mongolian spots: How important are they?243402747
The Italian National Centre for Rare Diseases: where research and public health translate into action249223007
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database 280995167
Disease and economic burden for rare diseases in Taiwan: A longitudinal study using Taiwan’s National Health Insurance Research Database30240449
Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study29752252
Survey of healthcare experiences of Australian adults living with rare diseases270122477
The MEROPS database of proteolytic enzymes, their substrates and inhibitors in 2017 and a comparison with peptidases in the PANTHER database29145643
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants27924018
Gaucher Disease: Insights from a Rare Mendelian Disorder23114583
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews15525722
Enzyme replacement therapies: what is the best option?30211074
Lysosomal storage diseases 29152458
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know30442161
Lysosomal Storage DisordersBOOK
Prevalence of lysosomal storage disorders9918480
The frequency of lysosomal storage diseases in The Netherlands10480370
Lysosomal Enzyme Replacement Therapies: Historical Development, Clinical Outcomes, and Future Perspectives 28502768
Signals from the lysosome: a control centre for cellular clearance and energy metabolism 23609508
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene11702224
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease27825773
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review20509947
Lysosomal storage disorders: Morphologic appraisal in Indian population28862206
Lysosomal storage diseases: heterogeneous group of disorders24455477
The Phyre2 web portal for protein modeling, prediction and analysis25950237
Protein secondary structure classification revisited: processing DSSP information with PSSC24866861
Newborn Screening for Lysosomal Storage Disorders29678259
Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.28654725
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database28099516
DrugBank: a knowledgebase for drugs, drug actions and drug targets18048412
Protein Data Bank (PDB): The Single Global Macromolecular Structure Archive28573592
The BRENDA enzyme information system-From a database to an expert system28438579
MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search27899610
UniProt Protein Knowledgebase28150232
The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses27322403
DextMP: deep dive into text for predicting moonlighting proteins28881966
Protein Secondary Structure Classification Revisited: Processing DSSP Information with PSSCArticle
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review20509947
Early markers of Fabry disease revealed by proteomics 25666440
A historical perspective of the glycosphingolipids and sphingolipidoses12803932
The pathophysiology of Fabry disease28843599
Metabolic progression to clinical phenotype in classic Fabry disease.28049500
Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy29288396
A CLINICAL AND BIOCHEMICAL STUDY OF THE MUCOPOLYSACCHARIDOSES219272257
Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population 40436557