Detalhe da pesquisa
1.
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
J Allergy Clin Immunol
; 153(5): 1392-1405, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280573
2.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
3.
Predicting non-response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities.
Dev Med Child Neurol
; 66(7): 919-930, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38140924
4.
Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review.
Eur J Pediatr
; 183(1): 83-93, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924348
5.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurol Sci
; 45(3): 1007-1016, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853291
6.
Reframing selection as a learning experience: Insights from a residency selection assessment.
Med Teach
; : 1-8, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335926
7.
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Hum Mol Genet
; 29(24): 3892-3899, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355653
8.
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.
Anal Chem
; 95(26): 9787-9796, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341384
9.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol
; 92(5): 895-901, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947102
10.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
J Inherit Metab Dis
; 2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402126
11.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
J Inherit Metab Dis
; 46(1): 66-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088537
12.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
J Inherit Metab Dis
; 2023 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455357
13.
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome.
Neuropediatrics
; 54(6): 365-370, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37478891
14.
Long-term outcomes for females with early-onset dystrophinopathy.
Dev Med Child Neurol
; 65(8): 1093-1104, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562406
15.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Cell Mol Life Sci
; 79(6): 305, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593933
16.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
17.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506430
18.
Lactate infusion as therapeutical intervention: a scoping review.
Eur J Pediatr
; 181(6): 2227-2235, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35304646
19.
Parents' experiences with a home-based upper limb training program using a video coaching approach for infants and toddlers with unilateral cerebral palsy: a qualitative interview study.
BMC Pediatr
; 22(1): 380, 2022 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768858
20.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132