Detalles de la búsqueda
1.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Mol Psychiatry
; 2024 Jan 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38200289
2.
Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
Differentiation
; 131: 74-81, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37167860
3.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
J Inherit Metab Dis
; 46(4): 554-572, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37243446
4.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35104841
5.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Hum Mol Genet
; 29(13): 2109-2123, 2020 08 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32186706
6.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Am J Med Genet A
; 188(4): 1124-1141, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35107211
7.
Improvements in Neighborhood Socioeconomic Conditions May Improve Resident Diet.
Am J Epidemiol
; 190(5): 798-806, 2021 05 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33047782
8.
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Genet Med
; 23(8): 1534-1542, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34007002
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33820958
10.
Critical analysis and limitations of resting ankle-brachial index in the diagnosis of symptomatic peripheral arterial disease patients and the role of diabetes mellitus and chronic kidney disease.
J Vasc Surg
; 71(3): 937-945, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31471230
11.
Factors related to health civic engagement: results from the 2018 National Survey of Health Attitudes to understand progress towards a Culture of Health.
BMC Public Health
; 20(1): 635, 2020 May 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32380964
12.
An audit tool for longitudinal assessment of the health-related characteristics of urban neighborhoods: implementation methods and reliability results.
BMC Public Health
; 20(1): 1519, 2020 Oct 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33028312
13.
Chronic kidney disease in propionic acidemia.
Genet Med
; 21(12): 2830-2835, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31249402
14.
Rice with reduced stomatal density conserves water and has improved drought tolerance under future climate conditions.
New Phytol
; 221(1): 371-384, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30043395
15.
Results from a natural experiment: initial neighbourhood investments do not change objectively-assessed physical activity, psychological distress or perceptions of the neighbourhood.
Int J Behav Nutr Phys Act
; 16(1): 29, 2019 03 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-30917831
16.
Making health a shared value: Lessons from nurse-designed models of care.
Nurs Outlook
; 67(3): 213-222, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30755319
17.
Promoting a Culture of Health Through Cross-Sector Collaborations.
Health Promot Pract
; 19(5): 784-791, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29699427
18.
Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.
PLoS Genet
; 10(10): e1004575, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25329635
19.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Am J Hum Genet
; 93(3): 506-14, 2013 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24011988
20.
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
Genet Med
; 18(4): 386-95, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26270765