Detalhe da pesquisa
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32668217
2.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
J Paediatr Child Health
; 57(4): 519-525, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33377563
3.
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
Ann Hum Genet
; 84(1): 11-28, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31418856
4.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36737246
5.
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Pediatr Res
; 84(6): 837-841, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30397276
6.
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.
Mol Genet Metab Rep
; 38: 101026, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38077955
7.
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Mol Genet Metab Rep
; 38: 101060, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38469103
8.
[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C]. / Consenso argentino sobre diagnóstico y tratamiento de la enfermedad de Niemann-Pick Tipo C.
Medicina (B Aires)
; 83(4): 588-602, 2023.
Artigo
Espanhol
| MEDLINE | ID: mdl-37582133
9.
A few challenges in mucopolysaccharidosis type I. / Algunos desafíos en mucopolisacaridosis tipo I.
Arch Argent Pediatr
; 119(3): e193-e201, 2021 06.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-34033424
10.
New recommendations for the care of patients with mucopolysaccharidosis type I. / Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I.
Arch Argent Pediatr
; 119(2): e121-e128, 2021 04.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-33749201
11.
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Nutrients
; 13(8)2021 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34444728
12.
Infantile-onset Pompe disease: Diagnosis and management. / Enfermedad de Pompe infantil: Diagnóstico y tratamiento.
Arch Argent Pediatr
; 117(4): 271-278, 2019 08 01.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-31339275
13.
CONSENSO ARGENTINO SOBRE LA TRANSICIÓN DE LOS CUIDADOS PEDIÁTRICOS A LOS CUIDADOS ADULTOS EN PACIENTES CON ENFERMEDADES CONGÉNITAS DEL METABOLISMO / CONSENSUS STATEMENT ON THE TRANSITION FROM PEDIATRIC CARE TO ADULT CARE IN PATIENTS WITH INBORN ERRORS OF METABOLISM IN ARGENTINA
Actual. nutr
; 24(3): 186-193, Jul-Sept 2023.
Artigo
Espanhol
| LILACS, ARGMSAL, BINACIS | ID: biblio-1511510
14.
Consenso Argentino sobre Diagnóstico y Tratamiento de la Enfermedad de Niemann-Pick tipo C / Argentinean Consensus on the Diagnosis and Treatment of Niemann-Pick Disease type C
Medicina (B.Aires)
; 83(4): 588-602, ago. 2023. graf
Artigo
Espanhol
|
LILACS-Express
| ID: biblio-1514517
15.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Orphanet J Rare Dis
; 13(1): 125, 2018 07 24.
Artigo
Inglês
| MEDLINE | ID: mdl-30041674
16.
Algunos desafíos en mucopolisacaridosis tipo I / A few challenges in mucopolysaccharidosis type I
Arch. argent. pediatr
; 119(3): e193-e201, Junio 2021. tab, ilus
Artigo
Inglês, Espanhol
| LILACS, BINACIS | ID: biblio-1223310
17.
Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I / New recommendations for the care of patients with mucopolysaccharidosis type I
Arch. argent. pediatr
; 119(2): e121-e128, abril 2021. tab
Artigo
Inglês, Espanhol
| BINACIS, LILACS | ID: biblio-1151878
18.
Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America
J. inborn errors metab. screen
; 8: e20200012, 2020. tab, graf
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1143187
19.
Enfermedad de Pompe infantil: Diagnóstico y tratamiento / Infantile-onset Pompe disease: Diagnosis and management
Arch. argent. pediatr
; 117(4): 271-278, ago. 2019. tab
Artigo
Inglês, Espanhol
| LILACS, BINACIS | ID: biblio-1054936
20.
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
J. inborn errors metab. screen
; 7: e20190012, 2019. tab
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1090982