Detalhe da pesquisa
1.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(8): 1522-1533, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33820958
2.
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.
Am J Med Genet A
; 182(7): 1750-1753, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32275121
3.
Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision-making in rare disease.
J Inherit Metab Dis
; 43(3): 438-458, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31883128
4.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
J Inherit Metab Dis
; 42(1): 93-106, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30740724
5.
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
Liver Transpl
; 28(12): 1947-1950, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35689402
6.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(11): 2233, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-33972722
7.
Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate.
Adv Neonatal Care
; 15(4): 241-7; quiz E1-2, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26225592
8.
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
Nat Rev Nephrol
; 16(8): 471-482, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32269302
9.
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Pediatr Clin North Am
; 65(2): 231-246, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29502911
10.
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Nat Genet
; 49(4): 613-617, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28288113
11.
Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.
J Pediatr Biochem
; 4(1): 57-63, 2014 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24634704