Detalhe da pesquisa
1.
Fatal cervical myelopathy in a child with glutaric aciduria type 1.
J Inherit Metab Dis
; 47(2): 217-219, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38326670
2.
Plasma biomarkers for Alzheimer's disease: a field-test in a memory clinic.
J Neurol Neurosurg Psychiatry
; 94(6): 420-427, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012066
3.
[Inborn errors of metabolism: a specialty at the forefront of precision medicine]. / Maladies innées du métabolisme : un domaine pionnier de la médecine de précision.
Rev Med Suisse
; 19(815): 358-361, 2023 Feb 22.
Artigo
em Francês
| MEDLINE | ID: mdl-36815325
4.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Hum Mol Genet
; 29(4): 618-623, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903486
5.
Changes of lipoprotein(a) levels with endogenous steroid hormones.
Eur J Clin Invest
; 52(2): e13699, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695230
6.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Eur J Neurol
; 29(11): 3229-3242, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200804
7.
Prognostic value of elevated lipoprotein(a) in patients with acute coronary syndromes.
Eur J Clin Invest
; 49(7): e13117, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937890
8.
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Am J Med Genet A
; 173(9): 2456-2460, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631894
9.
Fingerprinting of neurotoxic compounds using a mouse embryonic stem cell dual luminescence reporter assay.
Arch Toxicol
; 91(1): 365-391, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27015953
10.
[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]. / L'interniste face aux maladies rares: quand y penser? L'exemple des maladies mitochondriales.
Rev Med Suisse
; 13(546): 159-163, 2017 Jan 18.
Artigo
em Francês
| MEDLINE | ID: mdl-28703515
11.
Acute cortical deafness in a child with MELAS syndrome.
J Inherit Metab Dis
; 39(3): 465-466, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27056553
12.
Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.
Neuropediatrics
; 45(1): 64-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24297574
13.
[New therapies for children affected by bone diseases]. / Nouvelles thérapies pour les maladies osseuses de l'enfant.
Rev Med Suisse
; 8(329): 398-402, 2012 Feb 22.
Artigo
em Francês
| MEDLINE | ID: mdl-22432239
14.
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
BMC Neurol
; 11: 4, 2011 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21235791
15.
Parkinsonism is a Phenotypical Signature of Amyloidopathy in Patients with Gait Disorders.
J Alzheimers Dis
; 63(4): 1373-1381, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29843235
16.
Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy.
Brain Dev
; 36(1): 84-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273989
17.
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Orphanet J Rare Dis
; 9: 161, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25398587
18.
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Pediatrics
; 131(6): e1881-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23690520
19.
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Nat Genet
; 43(3): 189-96, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21258341
20.
Allopurinol, oxidative stress and intestinal permeability in patients with cirrhosis: an open-label pilot study.
Liver Int
; 27(1): 54-60, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17241381