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1.
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
J Inherit Metab Dis
; 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38802119
2.
Long-Term Antibody Response to SARS-CoV-2 in Children.
J Clin Immunol
; 43(1): 46-56, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36121535
3.
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Ann Neurol
; 90(5): 738-750, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34564892
4.
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.
J Proteome Res
; 20(9): 4366-4380, 2021 09 03.
Article
in English
| MEDLINE | ID: mdl-34383492
5.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32761064
6.
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Hum Mol Genet
; 27(10): 1732-1742, 2018 05 15.
Article
in English
| MEDLINE | ID: mdl-29514280
7.
Inborn errors of metabolism and the human interactome: a systems medicine approach.
J Inherit Metab Dis
; 41(3): 285-296, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29404805
8.
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
J Med Genet
; 52(3): 175-85, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25596310
9.
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
Hum Mol Genet
; 20(13): 2628-41, 2011 Jul 01.
Article
in English
| MEDLINE | ID: mdl-21527427
10.
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.
J Clin Invest
; 133(11)2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37014703
11.
Specific CD4+ T Cell Responses to Ancestral SARS-CoV-2 in Children Increase With Age and Show Cross-Reactivity to Beta Variant.
Front Immunol
; 13: 867577, 2022.
Article
in English
| MEDLINE | ID: mdl-35911689
12.
Varicella zoster virus ORF25 gene product: an essential hub protein linking encapsidation proteins and the nuclear egress complex.
J Proteome Res
; 10(12): 5374-82, 2011 Dec 02.
Article
in English
| MEDLINE | ID: mdl-21988664
13.
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.
Front Genet
; 12: 726174, 2021.
Article
in English
| MEDLINE | ID: mdl-34804114
14.
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.
Biochim Biophys Acta Mol Cell Res
; 1866(3): 518-531, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30366024
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