Detalhe da pesquisa
1.
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
J Inherit Metab Dis
; 46(1): 129-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225138
2.
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.
J Inherit Metab Dis
; 45(5): 926-936, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35560233
3.
Solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney.
Am J Physiol Renal Physiol
; 320(3): F351-F358, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459166
4.
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.
J Inherit Metab Dis
; 43(5): 1102-1111, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319100
5.
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
J Inherit Metab Dis
; 43(4): 891-900, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930735
6.
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
J Inherit Metab Dis
; 42(4): 620-628, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767241
7.
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Neuropediatrics
; 49(2): 154-157, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29401530
8.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
; 54(12): 809-814, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28391250
9.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
J Biol Chem
; 291(39): 20563-73, 2016 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519416
10.
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
J Inherit Metab Dis
; 39(1): 131-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174906
11.
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
J Inherit Metab Dis
; 39(5): 733-741, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342130
12.
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Mol Genet Metab Rep
; 39: 101066, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425868
13.
Specific GAG ratios in the diagnosis of mucopolysaccharidoses.
JIMD Rep
; 65(2): 116-123, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444580
14.
Levels of Circulating Ketone Bodies in Patients Undergoing Cardiac Surgery on Cardiopulmonary Bypass.
Cells
; 13(4)2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38391907
15.
ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Genes (Basel)
; 13(10)2022 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292732
16.
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses.
Mol Genet Metab Rep
; 29: 100827, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34900597
17.
Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (Mut-ko/ki) of methylmalonic aciduria.
JIMD Rep
; 58(1): 44-51, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728246
18.
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Biochim Biophys Acta Mol Basis Dis
; 1866(3): 165622, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31770620
19.
Employee embezzlement: a growing problem.
J Med Pract Manage
; 25(3): 146-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20073167
20.
Validation of a Food Frequency Questionnaire to Assess Intake of n-3 Polyunsaturated Fatty Acids in Switzerland.
Nutrients
; 11(8)2019 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31405149