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1.
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
J Inherit Metab Dis
; 42(5): 898-908, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31276219
2.
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
J Med Genet
; 55(1): 21-27, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29101127
3.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29205472
4.
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
J Inherit Metab Dis
; 41(6): 1215-1223, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29846843
5.
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
J Inherit Metab Dis
; 41(6): 1225-1233, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29725868
6.
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Acta Paediatr
; 107(8): 1402-1408, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29797470
7.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Acta Paediatr
; 107(12): 2059-2065, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30242902
8.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24499211
9.
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
Am J Med Genet A
; 170(7): 1799-805, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27127007
10.
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
Hum Mutat
; 36(2): 222-31, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25385316
11.
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Am J Med Genet A
; 167A(1): 211-4, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25338548
12.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1041-57, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25875215
13.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25875216
14.
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Neuropediatrics
; 46(2): 98-103, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25642805
15.
Phenotypic plasticity and the perception-action-cognition-environment paradigm in neurodevelopmental genetic disorders.
Dev Med Child Neurol
; 57 Suppl 2: 52-4, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25690118
16.
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
BMC Genomics
; 15: 91, 2014 Feb 01.
Article
in English
| MEDLINE | ID: mdl-24484525
17.
PRRT2 mutations: exploring the phenotypical boundaries.
J Neurol Neurosurg Psychiatry
; 85(4): 462-5, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24101679
18.
Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency.
J Inherit Metab Dis
; 37(1): 53-62, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23774949
19.
Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.
Eur J Pediatr
; 173(12): 1635-8, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-24233332
20.
Revised recommendations for the management of Gaucher disease in children.
Eur J Pediatr
; 172(4): 447-58, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-22772880