Found: 20
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The mutation spectrum of hyperphenylalanineaemia in the Republic of Ireland: the population history of the Irish revisited.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 9, p. 530, doi. 10.1038/sj.ejhg.5200841
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- Publication type:
- Article
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 549, doi. 10.1038/sj.ejhg.5200327
- By:
- Publication type:
- Article
PLASMA ALKALINE PHOSPHATASE ACTIVITY IN THE PRETERM NEONATE.
- Published in:
- Acta Paediatrica, 1981, v. 70, n. 4, p. 501, doi. 10.1111/j.1651-2227.1981.tb05730.x
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- Publication type:
- Article
A confused child: Question.
- Published in:
- 2007
- By:
- Publication type:
- Editorial
A confused child: Answer.
- Published in:
- 2007
- By:
- Publication type:
- Editorial
Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 1-2, p. 36, doi. 10.1159/000514989
- By:
- Publication type:
- Article
Permanent Decompensated Congenital Hypothyroidism in Newborns with Whole-Blood Thyroid-Stimulating Hormone Concentrations between 8 and 10 mU/L: The Case for Lowering the Threshold.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 4, p. 265, doi. 10.1159/000488288
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- Publication type:
- Article
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.
- Published in:
- Journal of Nutrition & Metabolism, 2017, p. 1, doi. 10.1155/2017/8570469
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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
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
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 49, doi. 10.1007/s10545-016-9979-0
- By:
- Publication type:
- Article
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 49, doi. 10.1007/s10545-010-9178-3
- By:
- Publication type:
- Article
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (For the PKU Special Issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195
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- Publication type:
- Article
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.
- Published in:
- Human Mutation, 2001, v. 17, n. 5, p. 432, doi. 10.1002/humu.1120
- By:
- Publication type:
- Article
l-2-Hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Vitamin D Status in Irish Children and Adolescents: Value of Fortification and Supplementation.
- Published in:
- Clinical Pediatrics, 2014, v. 53, n. 14, p. 1345, doi. 10.1177/0009922814541999
- By:
- Publication type:
- Article
Can Neonatal TSH Screening Reflect Trends in Population Iodine Intake.
- Published in:
- Thyroid, 2008, v. 18, n. 8, p. 883, doi. 10.1089/thy.2008.0036
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- Publication type:
- Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
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- Publication type:
- Article
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2254, doi. 10.1002/ajmg.a.35479
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- Publication type:
- Article