Detalhe da pesquisa
1.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34596301
2.
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.
Am J Med Genet A
; 188(3): 941-947, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34874093
3.
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.
J Med Genet
; 58(4): 247-253, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32487539
4.
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.
J Med Genet
; 58(3): 213-216, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32332102
5.
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Am J Med Genet A
; 185(3): 930-936, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33369099
6.
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.
Liver Int
; 41(10): 2427-2432, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34358398
7.
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
J Inherit Metab Dis
; 44(6): 1323-1329, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34176136
8.
Uridine Treatment of the First Known Case of SLC25A36 Deficiency.
Int J Mol Sci
; 22(18)2021 Sep 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34576089
9.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33257258
10.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32033912
11.
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
J Inherit Metab Dis
; 43(6): 1370-1381, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32852845
12.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Brain
; 142(8): 2230-2237, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31332433
13.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet
; 98(2): 310-21, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26833332
14.
Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.
Am J Med Genet A
; 179(7): 1371-1375, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31075182
15.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Am J Hum Genet
; 97(6): 894-903, 2015 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26637979
16.
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.
Genet Med
; 20(2): 259-268, 2018 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28749473
17.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24499211
18.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet
; 93(4): 727-34, 2013 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-24035193
19.
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.
Am J Med Genet A
; 170(12): 3319-3322, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27626616
20.
It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.
Alcohol Alcohol
; 51(2): 148-53, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26333807