| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Sarah H Elsea | |
| Rebecca E Lucas | |||
| P2860 | cites work | Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail | Q24564823 |
| Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region | Q24648974 | ||
| Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism | Q28236420 | ||
| Molecular genetics of metachromatic leukodystrophy | Q28307575 | ||
| Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment | Q28504760 | ||
| Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases | Q28506454 | ||
| Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet | Q28508237 | ||
| HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome | Q28508742 | ||
| Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease | Q28509950 | ||
| HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells | Q28511588 | ||
| A mouse model of galactose-induced cataracts | Q28511591 | ||
| Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice | Q28511888 | ||
| alpha-Galactosidase A deficient mice: a model of Fabry disease | Q28513530 | ||
| Brain purines in a genetic mouse model of Lesch-Nyhan disease | Q28513994 | ||
| A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice | Q28584741 | ||
| Pathological features of glycogen storage disease type II highlighted in the knockout mouse model | Q28586655 | ||
| Decelerated rate of dendrite outgrowth from dopaminergic neurons in primary cultures from brains of hypoxanthine phosphoribosyltransferase-deficient knockout mice | Q28587506 | ||
| Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene | Q28587632 | ||
| Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice | Q28591720 | ||
| Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease | Q28591743 | ||
| Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II | Q28592264 | ||
| Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease | Q28592824 | ||
| Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism | Q28593406 | ||
| Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis | Q28594483 | ||
| Targeted disruption of the methionine synthase gene in mice | Q28594791 | ||
| Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis | Q29040205 | ||
| Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy | Q30530571 | ||
| Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency | Q31421528 | ||
| Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice | Q32159154 | ||
| An animal model for cystic fibrosis made by gene targeting | Q33970549 | ||
| Demonstration that polyol accumulation is responsible for diabetic cataract by the use of transgenic mice expressing the aldose reductase gene in the lens | Q34502218 | ||
| Hyperuricemia and urate nephropathy in urate oxidase-deficient mice | Q34997786 | ||
| A mouse model for the delta F508 allele of cystic fibrosis. | Q35765143 | ||
| A mouse model for X-linked adrenoleukodystrophy | Q36566796 | ||
| Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy | Q37048481 | ||
| Porphyrias: animal models and prospects for cellular and gene therapy. | Q40433965 | ||
| Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor | Q41226239 | ||
| Modelling cystic fibrosis in the mouse | Q41671586 | ||
| Complementation of null CF mice with a human CFTR YAC transgene | Q42183922 | ||
| Sulfatide storage in visceral organs of arylsulfatase A-deficient mice | Q43703722 | ||
| Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene | Q44601366 | ||
| Production of a severe cystic fibrosis mutation in mice by gene targeting | Q45868497 | ||
| Hyperuricemia and mental retardation with athetosis and self-mutilation. | Q52130016 | ||
| Generation and characterization of a delta F508 cystic fibrosis mouse model. | Q52207066 | ||
| Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome. | Q52250356 | ||
| A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. | Q52507286 | ||
| Purine nucleotide synthesis in lymphoblasts cultured from normal subjects and a patient with Lesch-Nyhan syndrome. | Q54373367 | ||
| Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. | Q55034196 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 66-79 | |
| P577 | publication date | 2002-01-01 | |
| P1433 | published in | ILAR Journal | Q15756706 |
| P1476 | title | The mousetrap: what we can learn when the mouse model does not mimic the human disease | |
| P478 | volume | 43 |
| Q83228020 | A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome |
| Q26853349 | Animal models for lysosomal storage disorders |
| Q37872654 | Animal models of human genetic diseases: do they need to be faithful to be useful? |
| Q37823035 | Cardiotoxicity associated with targeting kinase pathways in cancer |
| Q35681280 | Challenges of translating basic research into therapeutics: resveratrol as an example |
| Q28478012 | Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration |
| Q33285195 | Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease |
| Q89479341 | Comparative pathology of human and canine myxomatous mitral valve degeneration: 5HT and TGF-β mechanisms |
| Q36302871 | Current and emerging therapies for the lysosomal storage disorders |
| Q48184096 | Different outcome of sarcoglycan missense mutation between human and mouse |
| Q38805680 | Discovery of mutations for Mendelian disorders |
| Q36349854 | Disruption ofPPT2in mice causes an unusual lysosomal storage disorder with neurovisceral features |
| Q37579376 | Emerging concepts in neural stem cell research: autologous repair and cell-based disease modelling |
| Q30490127 | Evaluation of animal models of neurobehavioral disorders |
| Q36362402 | Gangliosides as apoptotic signals in ER stress response |
| Q34325210 | Human pluripotent stem cells: an emerging model in developmental biology. |
| Q52720533 | In vivo bioassay to test the pathogenicity of missense human AIP variants. |
| Q43170306 | Lesch-Nyhan disease: from mechanism to model and back again |
| Q39373577 | Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease |
| Q81154564 | Modeling human disease by gene targeting |
| Q35172443 | Mouse models for neurological disease |
| Q28602393 | Mouse models of human disease: An evolutionary perspective |
| Q30463349 | New insights into behaviour using mouse ENU mutagenesis |
| Q89965644 | Novel Engraftment and T Cell Differentiation of Human Hematopoietic Cells in ART -/- IL2RG -/Y SCID Pigs |
| Q58790033 | Optogenetics: the new molecular approach to control functions of neural cells in epilepsy, depression and tumors of the central nervous system |
| Q52553055 | Paradigms for the identification of new genes in motor neuron degeneration. |
| Q38708488 | Physiologic Medium Rewires Cellular Metabolism and Reveals Uric Acid as an Endogenous Inhibitor of UMP Synthase. |
| Q37271259 | Progress and prospects for genetic modification of nonhuman primate models in biomedical research |
| Q97681364 | Prophylactic treatment with transdermal deferoxamine mitigates radiation-induced skin fibrosis |
| Q33210715 | Rodent models for dystonia research: characteristics, evaluation, and utility |
| Q61764891 | Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals |
| Q24801067 | Specific genetic modifications of domestic animals by gene targeting and animal cloning |
| Q33877469 | The Mouse Lemur, a Genetic Model Organism for Primate Biology, Behavior, and Health. |
| Q38828614 | Three-dimensional models for studying development and disease: moving on from organisms to organs-on-a-chip and organoids |
| Q41653948 | Titles and abstracts of scientific reports ignore variation among species |
| Q35592814 | Toward cell replacement therapy: promises and caveats |
| Q35634536 | Using human neural stem cells to model neurological disease. |
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