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1. Full Text A genetic map of melon highly enriched with fruit quality QTLs and EST markers, including sugar and carotenoid metabolism genes
by Harel-Beja, R and Tzuri, G and Portnoy, V and Lotan-Pompan, M and Lev, S and Cohen, S and Dai, N and Yeselson, L and Meir, A and Libhaber, S E and Avisar, E and Melame, T and van Koert, P and Verbakel, H and Hofstede, R and Volpin, H and Oliver, M and Fougedoire, A and Stalh, C and Fauve, J and Copes, B and Fei, Z and Giovannoni, J and Ori, N and Lewinsohn, E and Sherman, A and Burger, J and Tadmor, Y and Schaffer, A A and Katzir, N
Theoretical and Applied Genetics, ISSN 0040-5752, 8/2010, Volume 121, Issue 3, pp. 511 - 533
A genetic map of melon enriched for fruit traits was constructed, using a recombinant inbred (RI) population developed from a cross between representatives of... 
Life Sciences | Biochemistry, general | Biotechnology | Plant Biochemistry | Plant Breeding/Biotechnology | Agriculture | Plant Genetics & Genomics | TOMATO FRUIT | AGRONOMY | NEAR-ISOGENIC LINES | ALKALINE ALPHA-GALACTOSIDASE | ACID INVERTASE | RECOMBINANT INBRED LINES | FUSARIUM-WILT | PLANT SCIENCES | HORTICULTURE | QUANTITATIVE TRAIT LOCI | BETA-CAROTENE | CUCUMIS-MELO | GENETICS & HEREDITY | SUCROSE-PHOSPHATE SYNTHASE | beta Carotene - genetics | Carbohydrates - genetics | Fruit - chemistry | Genes, Plant | Chromosome Mapping | DNA Primers - genetics | Genome, Plant | DNA Primers - chemistry | beta Carotene - metabolism | Fruit - growth & development | Phenotype | Genetic Markers - genetics | Cucurbitaceae - genetics | Chromosomes, Plant - genetics | Cucurbitaceae - growth & development | Amplified Fragment Length Polymorphism Analysis | Fruit - genetics | Expressed Sequence Tags | Quantitative Trait Loci - genetics | Enzymes | Carbohydrate metabolism | Genes | Genomics | DNA
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2. Full Text Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
by Mechtler, Thomas P, MD and Stary, Susanne, PhD and Metz, Thomas F, MSc and De Jesús, Víctor R, PhD and Greber-Platzer, Susanne, MD and Pollak, Arnold, Prof and Herkner, Kurt R, PhD and Streubel, Berthold, Prof and Kasper, David C, PhD
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Summary Background The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement... 
Internal Medicine | alpha-Galactosidase - genetics | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Fabry Disease - genetics | Glucosylceramidase - blood | Humans | Male | Neonatal Screening | Incidence | Lysosomal Storage Diseases - diagnosis | Female | Niemann-Pick Diseases - diagnosis | Niemann-Pick Diseases - genetics | Infant, Newborn | alpha-Glucosidases - blood | Glycogen Storage Disease Type II - genetics | Lysosomal Storage Diseases - epidemiology | Austria - epidemiology | Lysosomal Storage Diseases - genetics | alpha-Galactosidase - blood | alpha-Glucosidases - genetics | Gaucher Disease - genetics | Glycogen Storage Disease Type II - diagnosis | Mutation | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Sphingomyelin Phosphodiesterase - blood | POMPE-DISEASE | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | THERAPY | ASSAY | METABOLISM | FABRY-DISEASE | TANDEM MASS-SPECTROMETRY | DRIED BLOOD SPOTS | KRABBE-DISEASE | INBORN-ERRORS | Metabolism, Inborn errors of | Infants (Newborn) | Usage | Medical examination | Diagnosis | Research | Babies | Quality control | Cystic fibrosis | Medical screening | Metabolism | Disease control | Blood | Metabolic disorders
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3. Full Text X‐chromosome inactivation in female patients with Fabry disease
by Echevarria, L and Benistan, K and Toussaint, A and Dubourg, O and Hagege, A.A and Eladari, D and Jabbour, F and Beldjord, C and De Mazancourt, P and Germain, D.P
Clinical Genetics, ISSN 0009-9163, 01/2016, Volume 89, Issue 1, pp. 44 - 54
Fabry disease ( FD ) is an X‐linked genetic disorder caused by the deficient activity of lysosomal α‐galactosidase (α‐Gal). While males are usually severely... 
phenotype | Fabry disease | heterozygotes | enzyme replacement therapy | X‐chromosome inactivation | Heterozygotes | Phenotype | Enzyme replacement therapy | X-chromosome inactivation | MUTATION ANALYSIS | CARRIER DETECTION | ATYPICAL VARIANT | PATTERNS | IDENTIFICATION | ALPHA-GALACTOSIDASE-A | POINT MUTATIONS | CLINICAL-MANIFESTATIONS | GENE | GENETICS & HEREDITY | Severity of Illness Index | alpha-Galactosidase - genetics | Promoter Regions, Genetic | Fabry Disease - genetics | Humans | Middle Aged | alpha-Galactosidase - metabolism | RNA, Long Noncoding - genetics | Genetic Diseases, X-Linked - diagnosis | Kidney Function Tests | Young Adult | Ventricular Remodeling | Fabry Disease - metabolism | Adult | Female | Genetic Diseases, X-Linked - genetics | Heterozygote | Aged | Enzyme Activation | Mutation | Fabry Disease - diagnosis | X Chromosome Inactivation | Women | Genetic research | Enzymes | Diagnostic imaging | Methylation | Health aspects | DNA methylation | Genotype & phenotype | Genetic disorders | Females | Rodents | Filtration | Magnetic resonance imaging | Cardiomyopathy | Population studies | Heart diseases | Fabry's disease | Glomerular filtration rate | Kidney transplantation
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4. Full Text A multi-substrate approach for functional metagenomics-based screening for (hemi)cellulases in two wheat straw-degrading microbial consortia unveils novel thermoalkaliphilic enzymes
by Maruthamuthu, Mukil and Jiménez Avella, Diego and Stevens, Patricia and van Elsas, Jan Dirk
BMC Genomics, ISSN 1471-2164, 2016, Volume 17, Issue 1, p. 86
BACKGROUND: Functional metagenomics is a promising strategy for the exploration of the biocatalytic potential of microbiomes in order to uncover novel enzymes... 
LIGNOCELLULOSIC BIOMASS | XYLANASE | Functional screening | Galactosidase | GLYCOSIDE HYDROLASES | LIBRARY | (Hemi)cellulose | EXPRESSION CLONING | IDENTIFICATION | DISCOVERY | Xylosidase | COMMUNITY | Chromogenic substrates | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | Metagenomic libraries | HEMICELLULASES | CELLULOSE | Cellulases - genetics | alpha-Galactosidase - genetics | Gene Library | Metagenomics - methods | Carbohydrate Metabolism - genetics | Cellulases - chemistry | Cellulases - metabolism | Xylosidases - genetics | High-Throughput Nucleotide Sequencing | Microbial Consortia - genetics | beta-Galactosidase - genetics | Gene Order | Metagenome | Triticum - microbiology | Enzymes | Microbial genetics | Genomics | Physiological aspects | Hydrolases | Genetic aspects | Research
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5. Full Text Gene dosage and coexpression with endoplasmic reticulum secretion-associated factors improved the secretory expression of α-galactosidase
by Han, Zheng-Gang and Zhang, Ji-Wen and Jiang, Xiao-Fang and Yang, Jiang-Ke
Protein Expression and Purification, ISSN 1046-5928, 01/2019, Volume 153, pp. 83 - 91
The α-galactosidases, which can catalyze the removal of α-1,6-linked terminal galactose residues from galactooligosaccharide materials, have good potential for... 
Galactosidase | Endoplasmic reticulum secretion associated factors | Gene dose | Copy number | Quantitative PCR | CLONING | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEIN EXPRESSION | BIOCHEMICAL RESEARCH METHODS | PICHIA-PASTORIS | alpha-Galactosidase - genetics | Basic-Leucine Zipper Transcription Factors - metabolism | Protein Disulfide-Isomerases - metabolism | Humans | Glycoproteins - metabolism | Endoplasmic Reticulum - metabolism | alpha-Galactosidase - metabolism | Endoplasmic Reticulum - chemistry | Pichia - metabolism | Aspergillus oryzae - enzymology | Cloning, Molecular | Industrial Microbiology - methods | Repressor Proteins - metabolism | Glycoproteins - genetics | Oxidoreductases Acting on Sulfur Group Donors - metabolism | Recombinant Proteins - metabolism | Gene Expression | Genetic Vectors - chemistry | Genetic Vectors - metabolism | Repressor Proteins - genetics | Gene Dosage | Recombinant Proteins - genetics | Basic-Leucine Zipper Transcription Factors - genetics | Fungal Proteins - genetics | Oligosaccharides - metabolism | Saccharomyces cerevisiae Proteins - genetics | Aspergillus oryzae - chemistry | Hydrolysis | Protein Disulfide-Isomerases - genetics | Oxidoreductases Acting on Sulfur Group Donors - genetics | Pichia - genetics | Saccharomyces cerevisiae Proteins - metabolism | Raffinose - metabolism | Fungal Proteins - metabolism
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6. Full Text AAV2 Vector Harboring a Liver-Restricted Promoter Facilitates Sustained Expression of Therapeutic Levels of α-Galactosidase A and the Induction of Immune Tolerance in Fabry Mice
by Ziegler, Robin J and Lonning, Scott M and Armentano, Donna and Li, Chester and Souza, David W and Cherry, Maribeth and Ford, Christine and Barbon, Christine M and Desnick, Robert J and Gao, Guangping and Wilson, James M and Peluso, Richard and Godwin, Simon and Carter, Barrie J and Gregory, Richard J and Wadsworth, Samuel C and Cheng, Seng H
Molecular Therapy, ISSN 1525-0016, 02/2004, Volume 9, Issue 2, pp. 231 - 240
The successful application of gene therapy for the treatment of genetic diseases such as Fabry is reliant on the development of vectors that are safe and that... 
lysosomal storage diseases | immune tolerance | AAV2 vector | glycosphingolipids | Fabry disease | gene therapy | liver-specific promoters | Glycosphingolipids | Immune tolerance | Lysosomal storage diseases | Gene therapy | Liver-specific promoters | STORAGE | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | MUCOPOLYSACCHARIDOSIS-I | VIRUS | MEDIATED GENE-TRANSFER | ADENOVIRAL VECTORS | ENZYME-REPLACEMENT THERAPY | ADENOASSOCIATED VIRAL VECTORS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | GLOBOTRIAOSYLCERAMIDE | alpha-Galactosidase - genetics | DNA, Recombinant - genetics | Dependovirus - genetics | Genetic Therapy | alpha-Galactosidase - therapeutic use | Genetic Vectors - administration & dosage | Fabry Disease - genetics | Liver - metabolism | Immune Tolerance | Male | Mice, Transgenic | alpha-Galactosidase - metabolism | Promoter Regions, Genetic - genetics | Genetic Vectors - genetics | Animals | Genetic Engineering | Enhancer Elements, Genetic - genetics | Mice | Mice, Inbred BALB C | Fabry Disease - therapy | Disease Models, Animal
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7. Full Text Long-term Transgene Expression from Plasmid DNA Gene Therapy Vectors Is Negatively Affected by CpG Dinucleotides
by Hodges, Bradley L and Taylor, Kristin M and Joseph, Macy F and Bourgeois, Sarah A and Scheule, Ronald K
Molecular Therapy, ISSN 1525-0016, 08/2004, Volume 10, Issue 2, pp. 269 - 278
CpG-reduced, CMV-based plasmid DNA constructs encoding human α-galactosidase A and factor IX were injected into C57Bl/6, BALB/c, and CD1 mice using... 
naked DNA | hemophilia | gene therapy | hydrodynamics-based | lysosomal storage disease | methylation | Gene therapy | Lysosomal storage disease | Methylation | Hydrodynamics-based | Naked DNA | Hemophilia | MEDICINE, RESEARCH & EXPERIMENTAL | TRANSCRIPTIONAL REPRESSION | METHYLATED DNA | MOUSE-LIVER | ADENOVIRAL VECTORS | BINDING-PROTEINS | SKELETAL-MUSCLE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | FACTOR-IX | GENETICS & HEREDITY | HISTONE DEACETYLASE | BACTERIAL-DNA | HEPATOCYTES IN-VIVO | alpha-Galactosidase - genetics | Factor IX - analysis | Humans | RNA, Messenger - analysis | DNA, Superhelical - genetics | alpha-Galactosidase - metabolism | RNA, Messenger - metabolism | Promoter Regions, Genetic - genetics | DNA Methylation | Plasmids - genetics | Factor IX - metabolism | Transduction, Genetic - methods | Cytomegalovirus - genetics | Gene Expression | Lysosomal Storage Diseases - therapy | Liver - metabolism | Transgenes - genetics | Factor IX - genetics | Hemophilia A - therapy | Genetic Vectors - genetics | Liver - chemistry | alpha-Galactosidase - blood | Animals | CpG Islands - genetics | Mice | DNA, Superhelical - metabolism | Genetic Therapy - methods
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8. Full Text Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature
by Morales, Jose and Al-Sharif, Latifa and Khalil, Dania S and Shinwari, Jameela M.A and Bavi, Prashant and Al-Mahrouqi, Rahima A and Al-Rajhi, Ali and Alkuraya, Fowzan S and Meyer, Brian F and Al Tassan, Nada
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 558 - 568
Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and... 
GENE | MARFAN-SYNDROME | DISEASE | GENETICS & HEREDITY | METALLOPROTEINASES | EXPRESSION | DOMAINS | WEILL-MARCHESANI-SYNDROME | PROTEASES | FAMILY | FBN1 | Immunohistochemistry | Gene Expression | Humans | Nuclear Family | Male | Mutation, Missense | Genes, Recessive | Sequence Analysis, DNA | Case-Control Studies | DNA - genetics | Myopia - genetics | DNA - isolation & purification | Dwarfism - genetics | Homozygote | Protein Isoforms - metabolism | Pedigree | ADAMTS Proteins | Female | Mutation | ADAM Proteins - genetics | Glaucoma - genetics | Ectopia Lentis - genetics | Genetic Linkage | Protein Isoforms - genetics | Gene mutations | Analysis | Myopia | Genetic aspects | Chemical properties | Alpha galactosidases | Fabry's disease
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9. Full Text The Complex and Evolving Story of T cell Activation to AAV Vector-encoded Transgene Products
by Mays, Lauren E and Wilson, James M
Molecular Therapy, ISSN 1525-0016, 01/2011, Volume 19, Issue 1, pp. 16 - 27
Original reports of adeno-associated virus (AAV) vector-mediated gene transfer to the muscle resulted in high-level β-galactosidase (β-gal) expression and the... 
MEDICINE, RESEARCH & EXPERIMENTAL | LONG-TERM CORRECTION | DENDRITIC CELLS | MEDIATED GENE-TRANSFER | ALPHA-GALACTOSIDASE-A | COAGULATION-FACTOR-IX | HEMOPHILIA-B DOGS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | IMMUNE-RESPONSES | IN-VIVO | GENETICS & HEREDITY | RECOMBINANT ADENOASSOCIATED-VIRUS | TOLL-LIKE RECEPTORS | Dependovirus - genetics | Genetic Vectors - administration & dosage | Genetic Vectors - immunology | Capsid Proteins - administration & dosage | Humans | Transgenes - genetics | Dependovirus - immunology | Genetic Vectors - genetics | Lymphocyte Activation - immunology | Animals | Immune Tolerance - immunology | Capsid Proteins - immunology | T-Lymphocytes - immunology | Transgenes - immunology | Capsid Proteins - genetics | Genetic Therapy - methods | Review
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10. Full Text Frequency of unrecognized fabry disease among young european-american and african-american men with first ischemic stroke
by Wozniak, Marcella A and Kittner, Steven J and Tuhrim, Stanley and Cole, John W and Stern, Barney and Dobbins, Mark and Grace, Marie E and Nazarenko, Irina and Dobrovolny, Robert and McDade, Eric and Desnick, Robert J
Stroke, ISSN 0039-2499, 01/2010, Volume 41, Issue 1, pp. 78 - 81
Background and Purpose-The cause of initial ischemic stroke in up to 30% of young patients remains unclear. Fabry disease, due to deficient alpha-galactosidase... 
Fabry disease | X-linked | Stroke | Genetic diseases | Genetic screening | Brain infarction | genetic diseases | brain infarction | PHENOTYPE | GALACTOSIDASE-A GENE | ATYPICAL VARIANT | PREVALENCE | IDENTIFICATION | stroke | CLINICAL NEUROLOGY | CRYPTOGENIC STROKE | genetic screening | HYPERTROPHIC CARDIOMYOPATHY | HEMODIALYSIS-PATIENTS | PERIPHERAL VASCULAR DISEASE | MUTATIONS | ALPHA-GALACTOSIDASE | Brain Ischemia - epidemiology | alpha-Galactosidase - genetics | European Continental Ancestry Group - genetics | Prevalence | Fabry Disease - epidemiology | Fabry Disease - genetics | Humans | Middle Aged | Risk Factors | Stroke - diagnosis | Brain Ischemia - genetics | African Americans - genetics | Male | Baltimore - epidemiology | Case-Control Studies | Stroke - genetics | Washington - epidemiology | Young Adult | Adolescent | Brain Ischemia - diagnosis | Adult | Polymorphism, Genetic - genetics | Stroke - epidemiology | Fabry Disease - diagnosis
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11. Full Text Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
by Lukas, Jan and Giese, Anne-Katrin and Markoff, Arseni and Grittner, Ulrike and Kolodny, Ed and Mascher, Hermann and Lackner, Karl J and Meyer, Wolfgang and Wree, Phillip and Saviouk, Viatcheslav and Rolfs, Arndt
PLoS Genetics, ISSN 1553-7390, 08/2013, Volume 9, Issue 8, pp. e1003632 - e1003632
Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by mutations in the gene encoding the lysosomal hydrolase... 
PLASMA | ENZYME-ACTIVITY | GLA GENE | GENETICS & HEREDITY | ATYPICAL VARIANT | YOUNG-PATIENTS | A GENE | PHARMACOLOGICAL CHAPERONE | SITE SPECIFIC CHAPERONE | D313Y | PREDICTION | alpha-Galactosidase - genetics | Fabry Disease - classification | 1-Deoxynojirimycin - metabolism | Fabry Disease - genetics | Humans | alpha-Galactosidase - metabolism | Mutation - genetics | Fabry Disease - pathology | Protein Transport - genetics | Phenotype | Sphingolipids - blood | 1-Deoxynojirimycin - analogs & derivatives | Amino Acid Substitution - genetics | Glycolipids - blood | Fabry Disease - diagnosis | Gene mutations | Physiological aspects | Genetic aspects | Sphingolipids | Research | Health aspects | Fabry's disease | Index Medicus | Enzymes | Plasma | Genotype & phenotype | Stroke | Disease | Metabolites | Biomarkers | Mutation | Females | Patients
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