Detalhe da pesquisa
1.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
J Inherit Metab Dis
; 46(6): 1043-1062, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603033
2.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600779
3.
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.
J Inherit Metab Dis
; 44(1): 226-239, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33448466
4.
Increased risk of sudden death in untreated primary carnitine deficiency.
J Inherit Metab Dis
; 43(2): 290-296, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373028
5.
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
J Inherit Metab Dis
; 39(5): 697-704, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106217
6.
Umbilical Cord Serum 25-Hydroxyvitamin D Concentrations and Relation to Birthweight, Head Circumference and Infant Length at Age 14 Days.
Paediatr Perinat Epidemiol
; 30(3): 238-45, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038010
7.
Asthma and allergy in children with and without prior measles, mumps, and rubella vaccination.
Pediatr Allergy Immunol
; 26(8): 742-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845848
8.
Prenatal exposure to persistent organochlorine pollutants is associated with high insulin levels in 5-year-old girls.
Environ Res
; 142: 407-13, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26232659
9.
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
J Inherit Metab Dis
; 37(2): 215-22, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23653224
10.
Inborn errors of energy metabolism associated with myopathies.
J Biomed Biotechnol
; 2010: 340849, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20589068
11.
Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Pediatr Blood Cancer
; 54(5): 758-60, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052779
12.
No changes in lymphocyte muscarinic receptors and platelet monoamine oxidase-B examined as surrogate central nervous system biomarkers in a Faroese children cohort prenatally exposed to methylmercury and polychlorinated biphenyls.
Biomarkers
; 14(2): 67-76, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19330584
13.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Brain
; 130(Pt 3): 862-74, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17301081
14.
Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis.
Pediatr Clin North Am
; 65(2): 247-265, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29502912
15.
Early-life exposures to persistent organic pollutants in relation to overweight in preschool children.
Reprod Toxicol
; 68: 145-153, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27496715
16.
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
JIMD Rep
; 36: 35-40, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28105570
17.
Gestational diabetes and offspring birth size at elevated environmental pollutant exposures.
Environ Int
; 107: 205-215, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28753482
18.
Association between perfluoroalkyl substance exposure and asthma and allergic disease in children as modified by MMR vaccination.
J Immunotoxicol
; 14(1): 39-49, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28091126
19.
Shorter duration of breastfeeding at elevated exposures to perfluoroalkyl substances.
Reprod Toxicol
; 68: 164-170, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27421579
20.
Behavioral difficulties in 7-year old children in relation to developmental exposure to perfluorinated alkyl substances.
Environ Int
; 97: 237-245, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27692925