Detalhe da pesquisa
1.
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
J Inherit Metab Dis
; 47(2): 327-339, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38112342
2.
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
Mol Genet Metab
; 140(1-2): 107633, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37414610
3.
Comparison of Efficacy of Lidocaine and Articaine as Inferior Alveolar Nerve Blocking Agents in Patients with Symptomatic Irreversible Pulpitis: Randomized Controlled Trial.
Medicina (Kaunas)
; 59(10)2023 Oct 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37893558
4.
Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes.
Mol Genet Metab
; 136(1): 22-27, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35304037
5.
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Mol Genet Metab
; 135(2): 122-132, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35012890
6.
British Association of Dermatologists guidelines for the management of adults with delusional infestation 2022.
Br J Dermatol
; 187(4): 472-480, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35582951
7.
19th Congress of the European Society for Dermatology and Psychiatry (ESDaP) and 2nd Brain Skin Colloquium Conference (BSC), June 11-13, 2021, London.
Acta Derm Venereol
; 102: adv00670, 2022 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34904681
8.
Intentional re-implantation in a left mandibular second molar with broken file in apical third of mesiobuccal root: A case report.
J Pak Med Assoc
; 72(12): 2542-2545, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37246687
9.
Assessing and managing the mental health of people with vitiligo: a UK-wide consultation exercise.
Br J Dermatol
; 190(4): 574-576, 2024 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38112664
10.
Treatments for primary delusional infestation.
Cochrane Database Syst Rev
; 12: CD011326, 2019 12 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31821546
11.
Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series.
Mol Genet Metab
; 123(2): 123-126, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29198891
12.
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
Mol Genet Metab
; 123(2): 97-104, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29352662
13.
Global VALIANT study: 'lifting the lid' on disappointment and frustration with the lack of effective treatment for vitiligo.
Br J Dermatol
; 189(6): e99-e102, 2023 11 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37705206
14.
Resilience in skin disease.
Br J Dermatol
; 189(Suppl 1): i1-i2, 2023 10 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37903070
15.
Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
Am J Med Genet A
; 173(3): 780-783, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-28211988
16.
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.
Mol Genet Metab
; 114(2): 170-7, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25541100
17.
Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale.
Mol Genet Metab
; 114(4): 594-8, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25770355
18.
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Mol Genet Metab
; 116(1-2): 61-8, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26095521
19.
Advances in androgen receptor targeted therapy for prostate cancer.
J Cell Physiol
; 229(3): 271-6, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24037862
20.
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
Mol Genet Metab
; 111(2): 123-7, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24368159