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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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-30740724
11.
Prenatal treatment of ornithine transcarbamylase deficiency.
Mol Genet Metab
; 123(3): 297-300, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29396029
12.
Patterns of Dietary Supplement Use in Children with Down Syndrome.
J Pediatr
; 201: 100-105.e30, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29961644
13.
22q11.2 deletion syndrome in diverse populations.
Am J Med Genet A
; 173(4): 879-888, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28328118
14.
Down syndrome in diverse populations.
Am J Med Genet A
; 173(1): 42-53, 2017 Jan.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-27215631
18.
Preoperative evaluation and comprehensive risk assessment for children with Down syndrome.
Paediatr Anaesth
; 26(4): 356-62, 2016 Apr.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-25503497