Search details
1.
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.
Prenat Diagn
; 44(4): 432-442, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38063435
2.
First case of desmosterolosis diagnosed by prenatal whole exome sequencing.
Am J Med Genet A
; 191(3): 859-863, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36538928
3.
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis.
Mol Genet Metab
; 137(3): 265-272, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36240580
4.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
J Inherit Metab Dis
; 44(4): 903-915, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33634872
5.
Detection of RNA-DNA binding sites in long noncoding RNAs.
Nucleic Acids Res
; 47(6): e32, 2019 04 08.
Article
in English
| MEDLINE | ID: mdl-30698727
6.
H3K4me2 and WDR5 enriched chromatin interacting long non-coding RNAs maintain transcriptionally competent chromatin at divergent transcriptional units.
Nucleic Acids Res
; 46(18): 9384-9400, 2018 10 12.
Article
in English
| MEDLINE | ID: mdl-30010961
7.
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB.
Mol Genet Metab
; 126(2): 131-138, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30635159
8.
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
9.
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
10.
Mechanism of Wnt signaling induced down regulation of mrhl long non-coding RNA in mouse spermatogonial cells.
Nucleic Acids Res
; 44(1): 387-401, 2016 Jan 08.
Article
in English
| MEDLINE | ID: mdl-26446991
11.
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
12.
Long Noncoding RNA: Genome Organization and Mechanism of Action.
Adv Exp Med Biol
; 1008: 47-74, 2017.
Article
in English
| MEDLINE | ID: mdl-28815536
13.
Genome wide chromatin occupancy of mrhl RNA and its role in gene regulation in mouse spermatogonial cells.
RNA Biol
; 11(10): 1262-79, 2014.
Article
in English
| MEDLINE | ID: mdl-25584904
14.
The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge.
Ann Nutr Metab
; 65(1): 42-8, 2014.
Article
in English
| MEDLINE | ID: mdl-25196394
15.
Control of focal adhesion kinase activation by RUNX1-regulated miRNAs in high-risk AML.
Leukemia
; 37(4): 776-787, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36788336
16.
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review.
Mol Genet Metab Rep
; 32: 100881, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35663302
17.
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.
Orphanet J Rare Dis
; 16(1): 13, 2021 01 06.
Article
in English
| MEDLINE | ID: mdl-33407676
18.
Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
Euroasian J Hepatogastroenterol
; 11(2): 100-102, 2021.
Article
in English
| MEDLINE | ID: mdl-34786365
19.
An uncommon cause of early infantile liver disease and raised chitotriosidase.
JIMD Rep
; 54(1): 22-24, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32685346
20.
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization.
JIMD Rep
; 49(1): 30-36, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31497479