Detalhe da pesquisa
1.
Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.
J Pediatr
; 246: 116-122.e1, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358588
2.
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
Am J Med Genet A
; 182(11): 2704-2708, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820583
3.
A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.
Pediatr Nephrol
; 35(9): 1761-1769, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32232638
4.
Rare disease therapeutics: The future of medical genetics in a changing landscape.
Genet Med
; 25(2): 100339, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476402
5.
Mechanisms of Amplified Arteriogenesis in Collateral Artery Segments Exposed to Reversed Flow Direction.
Arterioscler Thromb Vasc Biol
; 35(11): 2354-65, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26338297
6.
Effects of stretch and shortening on gene expression in intact myocardium.
Physiol Genomics
; 46(2): 57-65, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302644
7.
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
Children (Basel)
; 10(1)2023 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670656
8.
Programmed Cell Death in Cystinosis.
Cells
; 11(4)2022 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35203319
9.
Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).
Pediatr Neurol
; 119: 34-39, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33845444
10.
Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.
Int J Neonatal Screen
; 6(3)2020 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239598
11.
Differing Experiences with Breastfeeding in Residency Between Mothers and Coresidents.
Breastfeed Med
; 14(8): 575-579, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31219317
12.
Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1.
Am J Vet Res
; 69(12): 1637-45, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19046012
13.
Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays.
Neurology
; 95(4): 184-187, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32669393
14.
Heart Transplantation for TANGO2-Related Metabolic Encephalopathy and Arrhythmia Syndrome-Associated Cardiomyopathy.
Circ Genom Precis Med
; 13(4): e002928, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32527145
15.
Strains at the myotendinous junction predicted by a micromechanical model.
J Biomech
; 44(16): 2795-801, 2011 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21945569