Search details
1.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38563533
2.
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
J Inherit Metab Dis
; 46(6): 1206-1208, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37718464
3.
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
J Inherit Metab Dis
; 46(1): 15-27, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36134599
4.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37429829
5.
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.
Article
in English
| MEDLINE | ID: mdl-37603033
6.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36221165
7.
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
J Pediatr
; 235: 42-48, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33581104
8.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33496032
9.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33274439
10.
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.
J Inherit Metab Dis
; 43(5): 981-993, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32118306
11.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Ann Neurol
; 83(5): 970-979, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29665094
12.
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Eur J Pediatr
; 173(12): 1719-22, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25233985
13.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol
; 11(4): 883-898, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38263760
14.
Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents.
J Inherit Metab Dis
; 36(5): 767-72, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23296365
15.
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Biochim Biophys Acta
; 1812(5): 619-24, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21296660
16.
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.
J Inherit Metab Dis
; 35(2): 263-8, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22069142
17.
Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.
Mol Genet Metab
; 102(2): 122-5, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-21112803
18.
Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1.
Endocrinol Diabetes Metab Case Rep
; 20212021 Jan 11.
Article
in English
| MEDLINE | ID: mdl-33431709
19.
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Sci Rep
; 11(1): 19300, 2021 09 29.
Article
in English
| MEDLINE | ID: mdl-34588557
20.
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
Nutrients
; 13(1)2020 Dec 31.
Article
in English
| MEDLINE | ID: mdl-33396520