Found: 24
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Successful management of severe coronoid process hyperplasia in a patient with mucopolysaccharidosis VI: a case report.
- Published in:
- Journal of Surgical Case Reports, 2020, v. 2020, n. 1, p. N.PAG, doi. 10.1093/jscr/rjz388
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- Publication type:
- Article
Overcoming the barriers to diagnosis of Morquio A syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 192, doi. 10.1186/s13023-014-0192-7
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- Publication type:
- Article
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 173, doi. 10.1186/s13023-014-0173-x
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- Publication type:
- Article
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
- Published in:
- 2014
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- Publication type:
- journal article
Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i‐PARIHS framework.
- Published in:
- Nutrition & Dietetics, 2019, v. 76, n. 2, p. 141, doi. 10.1111/1747-0080.12517
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- Article
The natural history and osteodystrophy of mucolipidosis types II and III.
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- Journal of Paediatrics & Child Health, 2010, v. 46, n. 6, p. 316, doi. 10.1111/j.1440-1754.2010.01715.x
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- Publication type:
- Article
Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 829, doi. 10.1002/ajmg.a.61474
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- Publication type:
- Article
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
- Published in:
- 2019
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- Publication type:
- journal article
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
- Published in:
- 2019
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- Publication type:
- journal article
Rare presentation of a treatable disorder: glutaric aciduria type 1.
- Published in:
- New Zealand Medical Journal, 2015, v. 128, n. 1409, p. 65
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- Publication type:
- Article
Rare presentation of a treatable disorder: glutaric aciduria type 1.
- Published in:
- 2015
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- Publication type:
- Journal Article
Silver toxicity in an infant of strict vegan parents.
- Published in:
- 2001
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- Publication type:
- journal article
Immunoassay interference secondary to therapeutic high-dose biotin: A paediatric case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Lysosomal storage disorders: A review of the musculoskeletal features.
- Published in:
- 2016
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- Publication type:
- journal article
N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report.
- Published in:
- 2022
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- Publication type:
- Case Study
Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.
- Published in:
- Intensive Care Medicine, 2008, v. 34, n. 10, p. 1922, doi. 10.1007/s00134-008-1217-2
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- Publication type:
- Article
DID HARRIET LOUGHARY SEE THE elephant?
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- Overland Journal (07381093), 2010, v. 28, n. 3, p. 129
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- Publication type:
- Article
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
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- Clinical Chemistry, 2023, v. 69, n. 8, p. 890, doi. 10.1093/clinchem/hvad066
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- Publication type:
- Article
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult.
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- Movement Disorders, 2006, v. 21, n. 6, p. 869, doi. 10.1002/mds.20804
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- Publication type:
- Article
The molecular basis of cystathionine β-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 117, doi. 10.1002/humu.10104
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- Publication type:
- Article
Erratum: Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
- Published in:
- Human Mutation, 2001, v. 18, n. 6, p. 547, doi. 10.1002/humu.1237
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- Publication type:
- Article
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 351, doi. 10.1002/humu.37
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- Publication type:
- Article
Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1‐fetoprotein normalization.
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- Pediatric Transplantation, 2022, v. 26, n. 7, p. 1, doi. 10.1111/petr.14334
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- Publication type:
- Article
Fourier Transform Infrared Reflectance Spectra of Latent Fingerprints: A Biometric Gauge for the Age of an Individual.
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- Journal of Forensic Sciences, 2008, v. 53, n. 2, p. 369, doi. 10.1111/j.1556-4029.2007.00649.x
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- Publication type:
- Article