Detalhe da pesquisa
1.
Metabolomic profiles of 38 acylcarnitines in major depressive episodes before and after treatment.
Psychol Med
; 54(2): 289-298, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37226550
2.
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
J Inherit Metab Dis
; 47(2): 255-269, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38012812
3.
Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.
Pediatr Nephrol
; 2024 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38261066
4.
Plasma acetyl-l-carnitine and l-carnitine in major depressive episodes: a case-control study before and after treatment.
Psychol Med
; 53(6): 2307-2316, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35115069
5.
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
BMC Med
; 20(1): 95, 2022 03 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35341481
6.
The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants.
Pediatr Nephrol
; 37(4): 907-911, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35015123
7.
Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.
Pediatr Nephrol
; 36(3): 581-589, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32901297
8.
Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.
J Neurol Neurosurg Psychiatry
; 2020 Oct 21.
Artigo
Inglês
| MEDLINE | ID: mdl-33087424
9.
Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.
Int J Mol Sci
; 21(9)2020 Apr 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32354056
10.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat
; 40(10): 1826-1840, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31116475
11.
Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases.
Nephrol Dial Transplant
; 38(2): 517-521, 2023 02 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36307929
12.
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Biochim Biophys Acta Mol Basis Dis
; 1863(12): 3294-3302, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28888424
13.
Hyperglycinemia in a 5-Week-Old Boy with Pulmonary Arterial Hypertension.
Clin Chem
; 68(4): 604-606, 2022 03 31.
Artigo
Inglês
| MEDLINE | ID: mdl-36358004
14.
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Mol Genet Metab
; 121(2): 111-118, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28396157
15.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
J Inherit Metab Dis
; 40(3): 415-422, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28255778
16.
Renal function can be impaired in children with primary hyperoxaluria type 3.
Pediatr Nephrol
; 30(10): 1807-13, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25972204
17.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
J Clin Rheumatol
; 26(5): e125-e127, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-30801335
18.
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Kidney Int
; 86(6): 1197-204, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24988064
19.
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
N Engl J Med
; 374(8): 795-7, 2016 Feb 25.
Artigo
Inglês
| MEDLINE | ID: mdl-26933868
20.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Ann Clin Transl Neurol
; 2024 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38703036