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1.
The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
Am J Med Genet A;
191(4): 948-961, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36708136
2.
Amino acid signature during sickle cell pain crisis shows significant alterations related to nitric oxide and energy metabolism.
Mol Genet Metab;
137(1-2): 146-152, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36030599
3.
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Mol Genet Metab;
133(1): 71-82, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33741272
4.
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.
Am J Med Genet A;
185(1): 68-72, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33051968
5.
Combined l-citrulline and tetrahydrobiopterin therapy improves NO signaling and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs.
Am J Physiol Lung Cell Mol Physiol;
318(4): L762-L772, 2020 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32073878
6.
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Mol Genet Metab;
130(3): 183-196, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32451238
7.
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
Mol Genet Metab;
128(4): 444-451, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31648943
8.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Mol Genet Metab;
126(4): 397-405, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30827756
9.
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
J Inherit Metab Dis;
42(6): 1162-1175, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30734935
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740724
11.
Prenatal treatment of ornithine transcarbamylase deficiency.
Mol Genet Metab;
123(3): 297-300, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29396029
12.
Patterns of Dietary Supplement Use in Children with Down Syndrome.
J Pediatr;
201: 100-105.e30, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29961644
13.
22q11.2 deletion syndrome in diverse populations.
Am J Med Genet A;
173(4): 879-888, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28328118
14.
Down syndrome in diverse populations.
Am J Med Genet A;
173(1): 42-53, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27991738
15.
Tetrahydrobiopterin oral therapy recouples eNOS and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs.
Am J Physiol Lung Cell Mol Physiol;
311(4): L743-L753, 2016 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27542807
16.
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
Mol Genet Metab;
117(3): 355-362, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26740382
17.
Climbing the Ladder: Experience with Developing a Large Group Genetic Counselor Career Ladder at Children's National Health System.
J Genet Couns;
25(4): 644-8, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27215631
18.
Preoperative evaluation and comprehensive risk assessment for children with Down syndrome.
Paediatr Anaesth;
26(4): 356-62, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26749540
19.
Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs.
Am J Respir Cell Mol Biol;
53(2): 255-64, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25536367
20.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Genet Med;
17(7): 561-8, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25503497