Detalhe da pesquisa
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
2.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
3.
Restless legs syndrome in DNAJC12 deficiency.
Neurol Sci
; 44(6): 2167-2172, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897462
4.
X-ray reflectivity from curved surfaces as illustrated by a graphene layer on molten copper.
J Synchrotron Radiat
; 29(Pt 3): 711-720, 2022 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511004
5.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Mol Genet Metab
; 135(1): 109-113, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969638
6.
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
J Inherit Metab Dis
; 44(4): 916-925, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580884
7.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Mol Genet Metab
; 131(1-2): 155-162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651154
8.
Neonatal phenylalanine wash-out in phenylketonuria.
Metab Brain Dis
; 35(7): 1225-1229, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661828
9.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Am J Hum Genet
; 98(2): 322-30, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833330
10.
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism.
J Pediatr Gastroenterol Nutr
; 69(2): 160-162, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964822
11.
Identification of calcium pyrophosphate deposition disease (CPPD) by ultrasound: reliability of the OMERACT definitions in an extended set of joints-an international multiobserver study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force.
Ann Rheum Dis
; 77(8): 1194-1199, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29535120
12.
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
Mol Genet Metab
; 124(3): 210-215, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895405
13.
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.
Pediatr Blood Cancer
; 65(2)2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29090525
14.
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.
Nephrology (Carlton)
; 23(10): 957-961, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29888426
15.
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.
J Pediatr
; 168: 236-239.e1, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26515614
16.
Genealogy of breastfeeding.
Eur J Pediatr
; 175(1): 105-12, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264144
17.
The Italian MSUS Study Group recommendations for the format and content of the report and documentation in musculoskeletal ultrasonography in rheumatology.
Rheumatology (Oxford)
; 53(2): 367-73, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24196388
18.
Muscle shortening manoeuvre reduces pain and functional impairment in shoulder impingement syndrome: clinical and ultrasonographic evidence.
Clin Exp Rheumatol
; 32(1): 5-10, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24050647
19.
High frequency ultrasound can detect improvement of lesions in juvenile localized scleroderma.
Mod Rheumatol
; 24(5): 869-73, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24251994
20.
Standardization of interstitial lung disease assessment by ultrasound: results from a Delphi process and web-reliability exercise by the OMERACT ultrasound working group.
Semin Arthritis Rheum
; 65: 152406, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401294