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1.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36994644
2.
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
J Inherit Metab Dis
; 46(3): 466-481, 2023 05.
Article
in English
| MEDLINE | ID: mdl-37067856
3.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Article
in English
| MEDLINE | ID: mdl-38044746
4.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35503103
5.
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Mol Genet Metab
; 135(2): 133-142, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34991944
6.
Inborn errors of metabolism and their impact in paediatric dentistry.
J Inherit Metab Dis
; 45(3): 417-430, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35244948
7.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33595124
8.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31462754
9.
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
J Inherit Metab Dis
; 42(6): 1192-1230, 2019 11.
Article
in English
| MEDLINE | ID: mdl-30982989
10.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29602790
11.
Oculomotor abnormalities in children with Niemann-Pick type C.
Mol Genet Metab
; 123(2): 159-168, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29191430
12.
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.
Cogn Neuropsychol
; 35(3-4): 120-147, 2018.
Article
in English
| MEDLINE | ID: mdl-29741470
13.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 41(4): 743-744, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29330779
14.
Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.
Neuroradiology
; 60(12): 1353-1356, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30328501
15.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Am J Hum Genet
; 94(3): 453-61, 2014 Mar 06.
Article
in English
| MEDLINE | ID: mdl-24530203
16.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
J Inherit Metab Dis
; 40(3): 357-368, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28251416
17.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis
; 40(1): 49-74, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27778219
18.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
J Med Genet
; 53(11): 768-775, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27412952
19.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 39(5): 661-672, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27106216
20.
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Anal Chem
; 87(24): 12238-44, 2015 Dec 15.
Article
in English
| MEDLINE | ID: mdl-26537538