Found: 24
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Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.
- Published in:
- Metabolites (2218-1989), 2023, v. 13, n. 4, p. 518, doi. 10.3390/metabo13040518
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- Publication type:
- Article
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
- Published in:
- Human Reproduction Update, 2023, v. 29, n. 2, p. 246, doi. 10.1093/humupd/dmac041
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- Publication type:
- Article
Determination of the lactose and galactose content of common foods: Relevance to galactosemia.
- Published in:
- Food Science & Nutrition, 2022, v. 10, n. 11, p. 3789, doi. 10.1002/fsn3.2976
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- Publication type:
- Article
Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 76, doi. 10.1002/jmd2.12237
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- Publication type:
- Article
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 639, doi. 10.1002/jimd.12337
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- Publication type:
- Article
Impact of trimethylaminuria on daily psychosocial functioning.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 67, doi. 10.1002/jmd2.12170
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- Publication type:
- Article
The role of primary care in management of rare diseases in Ireland.
- Published in:
- Irish Journal of Medical Science, 2020, v. 189, n. 3, p. 771, doi. 10.1007/s11845-019-02168-4
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- Publication type:
- Article
Challenges in diagnosing and managing adult patients with urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1136, doi. 10.1002/jimd.12096
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- Publication type:
- Article
Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5236, doi. 10.3390/ijms20205236
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- Publication type:
- Article
Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 809, doi. 10.1002/jimd.12135
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- Publication type:
- Article
The genetic and biochemical basis of trimethylaminuria in an Irish cohort.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 35, doi. 10.1002/jmd2.12028
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- Publication type:
- Article
Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 4, doi. 10.1002/jmd2.12016
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- Publication type:
- Article
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.
- Published in:
- 2018
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- Publication type:
- journal article
Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemia.
- Published in:
- 2018
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- Publication type:
- journal article
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The Irish National Rare Disease Office (NRDO): A national step towards improving access to health and care services for individuals and families living with Rare Diseases.
- Published in:
- 2017
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- Publication type:
- Abstract
Clinical utility gene card for: Trimethylaminuria - update 2014.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. -1, doi. 10.1038/ejhg.2014.226
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- Publication type:
- Article
Fertility preservation in female classic galactosemia patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-107
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- Publication type:
- Article
Fertility preservation in female classic galactosemia patients.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Clinical utility gene card for: Trimethylaminuria.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.214
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- Publication type:
- Article
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
- Published in:
- 2012
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- Publication type:
- journal article
Glycogen storage disease type III in the Irish population.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 215, doi. 10.1007/s10545-010-9096-4
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- Publication type:
- Article
Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians.
- Published in:
- BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-41
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- Publication type:
- Article