Found: 31
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Genotypic analysis of a localised hotspot of Pestivirus A (BVDV-1) infections in Northern Ireland.
- Published in:
- Veterinary Record: Journal of the British Veterinary Association, 2024, v. 194, n. 10, p. 1, doi. 10.1002/vetr.4150
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- Publication type:
- Article
Pestivirus apparent prevalence in sheep and goats in Northern Ireland: A serological survey.
- Published in:
- Veterinary Record: Journal of the British Veterinary Association, 2021, v. 188, n. 1, p. 42, doi. 10.1002/vetr.1
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- Publication type:
- Article
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 107, doi. 10.1002/jimd.12032
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- Article
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
- Published in:
- 2015
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- Publication type:
- journal article
Application of a Policy Framework for the Public Funding of Drugs for Rare Diseases.
- Published in:
- JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 774, doi. 10.1007/s11606-014-2885-y
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- Publication type:
- Article
Application of a policy framework for the public funding of drugs for rare diseases.
- Published in:
- 2014
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- Publication type:
- journal article
Erythropoietic Protoporphyria: Spectrum of Three Cases.
- Published in:
- Journal of Cutaneous Medicine & Surgery, 2012, v. 16, n. 5, p. 311, doi. 10.1177/120347541201600507
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- Publication type:
- Article
Systolic Myocardial Mechanics in Patients with Anderson-Fabry Disease with and without Left Ventricular Hypertrophy and in Comparison to Nonobstructive Hypertrophic Cardiomyopathy.
- Published in:
- Echocardiography, 2012, v. 29, n. 7, p. 810, doi. 10.1111/j.1540-8175.2012.01704.x
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- Publication type:
- Article
Source document verification in the Mucopolysaccharidosis Type I Registry.
- Published in:
- Pharmacoepidemiology & Drug Safety, 2012, v. 21, n. 7, p. 749, doi. 10.1002/pds.2200
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- Publication type:
- Article
Case report: long‐term outcome post‐heart transplantation in a woman with Fabry's disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 385, doi. 10.1007/s10545-010-9194-3
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- Publication type:
- Article
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 421, doi. 10.1007/s10545-010-9113-7
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- Publication type:
- Article
An overview of L-2-hydroxyglutarate dehydrogenase gene ( L2HGDH) variants: a genotype-phenotype study.
- Published in:
- 2010
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- Publication type:
- Other
Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease.
- Published in:
- BMC Medical Education, 2010, v. 10, p. 72, doi. 10.1186/1472-6920-10-72
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- Publication type:
- Article
Clinical Heterogeneity in Ethylmalonic Encephalopathy.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 8, p. 991, doi. 10.1177/0883073808331359
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- Publication type:
- Article
Occupant Behavior in Naturally Ventilated and Hybrid Buildings.
- Published in:
- ASHRAE Transactions, 2009, v. 115, n. 1, p. 16
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- Publication type:
- Article
Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease.
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- Journal of Genetic Counseling, 2008, v. 17, n. 6, p. 528
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- Publication type:
- Article
Development of Adaptive Algorithms for the Operation of Windows, Fans, and Doors to Predict Thermal Comfort and Energy Use in Pakistani Buildings.
- Published in:
- ASHRAE Transactions, 2008, v. 114, n. 2, p. 555
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- Publication type:
- Article
Existing Diagnostic Dilemmas in Anderson-Fabry Disease and Advances Toward Their Solution.
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- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 41
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- Article
Treatment of Lysosomal Storage Disorders: Progress with Enzyme Replacement Therapy.
- Published in:
- Drugs, 2007, v. 67, n. 18, p. 2697, doi. 10.2165/00003495-200767180-00005
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- Publication type:
- Article
Narrative Review: Fabry Disease.
- Published in:
- Annals of Internal Medicine, 2007, v. 146, n. 6, p. 425, doi. 10.7326/0003-4819-146-6-200703200-00007
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- Publication type:
- Article
Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy.
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- Canadian Medical Association Journal (CMAJ), 2006, v. 174, n. 2, p. 189, doi. 10.1503/cmaj.050706
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- Article
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
- Published in:
- 2005
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- Publication type:
- journal article
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 284, doi. 10.1002/humu.10124
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- Publication type:
- Article
Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2001, v. 165, n. 5, p. 595
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- Publication type:
- Article
Enzyme replacement therapy for Gaucher's disease: the early Canadian experience.
- Published in:
- 1998
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- Publication type:
- journal article
W474C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with subacute G<sub>M2</sub> gangliosidosis.
- Published in:
- Human Mutation, 1998, v. 11, n. 6, p. 432, doi. 10.1002/(SICI)1098-1004(1998)11:6<432::AID-HUMU3>3.0.CO;2-Z
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- Publication type:
- Article
Ornithine Transcarbamylase Deficiency in Females: An Often Overlooked Cause of Treatable Encephalopathy.
- Published in:
- Journal of Child Neurology, 1995, v. 10, n. 5, p. 369, doi. 10.1177/088307389501000506
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- Publication type:
- Article
Genotype-phenotype pitfalls in Gaucher disease.
- Published in:
- 1994
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- Publication type:
- journal article
Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration.
- Published in:
- Journal of Child Neurology, 1991, v. 6, n. 3, p. 229, doi. 10.1177/088307389100600304
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- Publication type:
- Article
Undiagnosed phenylketonuria in adult women: a hidden public health problem.
- Published in:
- 1990
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- Publication type:
- journal article
Catabolism of Exogenous and Endogenous Sphingomyelin and Phosphatidylcholine by Homogenates and Subcellular Fractions of Cultured Neuroblastoma Cells. Effects of Anesthetics.
- Published in:
- Journal of Neurochemistry, 1985, v. 44, n. 5, p. 1551, doi. 10.1111/j.1471-4159.1985.tb08794.x
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- Publication type:
- Article