Detalhe da pesquisa
1.
Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies.
Genet Med
; 26(5): 101086, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288684
2.
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
J Inherit Metab Dis
; 45(5): 981-995, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35758105
3.
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.
Neurol Sci
; 41(4): 943-949, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863326
4.
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Clin Genet
; 96(2): 126-133, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919934
5.
Mycoplasma Pneumoniae and Antibodies against Galactocerebroside in a 9-Year-Old Boy with Encephalitis.
Neuropediatrics
; 50(1): 54-56, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30477031
6.
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
J Inherit Metab Dis
; 41(4): 641-646, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28894950
7.
Extremely Painful Multifocal Acquired Predominant Axonal Sensorimotor Neuropathy of the Upper Limb.
J Ultrasound Med
; 37(6): 1565-1574, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159899
8.
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
J Lipid Res
; 58(5): 1002-1007, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28314860
9.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet
; 92(6): 946-54, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664116
10.
The value of routine creatine kinase and thyroid stimulating hormone testing in patients with suspected fibromyalgia: a cross-sectional study.
Rheumatology (Oxford)
; 55(7): 1273-6, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27032423
11.
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding.
Ann Neurol
; 87(1): 10-11, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31710728
12.
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
Eur J Pediatr
; 175(1): 143-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26156051
13.
Ultrasound of the cervical roots and brachial plexus in neonates.
Muscle Nerve
; 51(1): 35-41, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24817269
14.
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
J Inherit Metab Dis
; 38(2): 359-61, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25488625
15.
Chorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis.
Neuropediatrics
; 51(4): 311-312, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32294766
16.
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice.
Brain
; 135(Pt 4): 1081-101, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22396395
17.
Dilated fixed pupils and respiratory failure: a rare clinical course of Lambert-Eaton myasthenic syndrome.
BMJ Neurol Open
; 5(2): e000426, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609505
18.
Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis.
Nutrients
; 15(21)2023 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37960277
19.
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Clin Chim Acta
; 539: 170-174, 2023 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529270
20.
Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid.
Neurology
; 99(13): 559-566, 2022 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918173