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Respiratory Medicine Case Reports, ISSN 2213-0071, 2020, Volume 29, p. 100983
We describe this case of a young gentleman presenting with acute dyspnoea on a background history of known, long-standing asthma. His dramatic presentation,... 
Case report | Dyspnoea | Ascorbic acid | Type one congenital methaemoglobinaemia | Rare | Cyanosis | Riboflavin | Asthma | Case Report
Journal Article
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 02/2018, Volume 68, pp. 203 - 208
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a... 
Therapy | Delphi study | Gaucher disease | PROMs | Management goals | MIGLUSTAT | ADULTS | ALPHA | MARKED ELEVATION | TRIAL | GLUCOCEREBROSIDASE | HEMATOLOGY | ENZYME REPLACEMENT THERAPY | SEVERITY | Life Sciences | Hematology | Human health and pathology
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2003, Volume 26, Issue 6, pp. 513 - 526
Journal Article
Biochemistry (Moscow), ISSN 0006-2979, 7/2013, Volume 78, Issue 7, pp. 721 - 725
The lysosomal storage disorders (LSD) represent a heterogeneous group of inherited diseases characterized by the accumulation of non-metabolized macromolecules... 
Life Sciences | Biochemistry, general | inherited diseases | Microbiology | lysosomes | animal model | lysosomal storage disorders (LSD) | Bioorganic Chemistry | Biomedicine general | AUTOPHAGIC DYSFUNCTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | FABRY-DISEASE | MOUSE MODELS | REPLACEMENT | THERAPY | ENZYME | PATHOGENIC CASCADES | TAY-SACHS | Recombinant Proteins - therapeutic use | Serine Proteases - genetics | Niemann-Pick Disease, Type C - drug therapy | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - therapeutic use | Humans | Glycogen Storage Disease Type II - drug therapy | Recombinant Proteins - biosynthesis | Glycogen Storage Disease Type II - pathology | Niemann-Pick Disease, Type C - pathology | Niemann-Pick Disease, Type C - metabolism | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - metabolism | alpha-Glucosidases - therapeutic use | Lysosomal Storage Diseases - drug therapy | Aminopeptidases - therapeutic use | Drug Evaluation, Preclinical | Aminopeptidases - metabolism | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Disease Models, Animal | Serine Proteases - metabolism | Aminopeptidases - genetics | Recombinant Proteins - genetics | Lysosomal Storage Diseases - pathology | Serine Proteases - therapeutic use | alpha-Glucosidases - genetics | Animals | Glycogen Storage Disease Type II - metabolism | Lysosomal Storage Diseases - metabolism | alpha-Glucosidases - metabolism | Lysosomes | Physiological aspects | Genetic disorders | Health aspects | Biochemistry | Glycoproteins | Pathogenesis
Journal Article