Detalhe da pesquisa
1.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Brain
; 146(7): 3003-3013, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729635
2.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
3.
Reference Material for Hammersmith Infant Neurologic Examination Scores Based on Healthy, Term Infants Age 3-7 Months.
J Pediatr
; 244: 79-85.e12, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093317
4.
Lower iron stores were associated with suboptimal gross motor scores in infants at 3-7 months.
Acta Paediatr
; 111(10): 1941-1949, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35766116
5.
Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency.
Acta Paediatr
; 111(12): 2315-2321, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029294
6.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Hum Mutat
; 42(2): 135-141, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169484
7.
Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data.
J Inherit Metab Dis
; 44(3): 593-605, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32996606
8.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
9.
Small effort, high impact: Focus on physical activity improves oxygen uptake (VO2peak ), quality of life, and mental health after pediatric renal transplantation.
Pediatr Transplant
; : e13242, 2018 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29921004
10.
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Mol Genet Metab
; 122(4): 182-188, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122468
12.
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Genet Med
; 18(10): 991-1000, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913920
13.
Angiotensin II type 1 receptor antibodies in childhood kidney transplantation.
Pediatr Transplant
; 20(5): 627-32, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27251358
14.
The prevalence of skin disorders in Norwegian paediatric renal transplant recipients.
Acta Derm Venereol
; 94(4): 421-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24287733
15.
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
Drugs R D
; 24(1): 69-80, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198106
16.
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Front Neurol
; 15: 1355861, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419708
17.
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease.
JIMD Rep
; 64(5): 360-366, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701324
18.
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.
Int J Neonatal Screen
; 9(4)2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132826
19.
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.
Int J Neonatal Screen
; 9(1)2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648770
20.
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.
Epilepsy Res
; 190: 107099, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36731270