Detalhe da pesquisa
1.
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.
J Inherit Metab Dis
; 43(6): 1186-1198, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743799
2.
Modelling of neutrophil dynamics in children receiving busulfan or treosulfan for haematopoietic stem cell transplant conditioning.
Br J Clin Pharmacol
; 86(8): 1537-1549, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077123
3.
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Am J Hum Genet
; 99(6): 1325-1337, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912044
4.
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
JIMD Rep
; 64(5): 317-326, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701329
5.
Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.
J Inherit Metab Dis
; 35(2): 311-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21687968
6.
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.
JIMD Rep
; 63(2): 137-145, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281661
7.
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.
Mol Genet Metab
; 101(2-3): 149-52, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20692860
8.
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.
Mol Ther Methods Clin Dev
; 18: 558-570, 2020 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32775491
9.
Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial.
Clin Pharmacol Ther
; 108(2): 264-273, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701524
10.
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
Nat Commun
; 9(1): 3505, 2018 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158522
11.
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.
Nat Commun
; 6: 6388, 2015 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736695