Search details
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32668217
2.
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Mol Genet Metab
; 140(3): 107696, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37690181
3.
Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.
Pediatr Res
; 94(6): 2005-2015, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37454183
4.
Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.
J Pediatr
; 246: 116-122.e1, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35358588
5.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Article
in English
| MEDLINE | ID: mdl-34581780
6.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1705-1714, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34140661
7.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab
; 132(1): 19-26, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33388234
8.
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.
Mol Genet Metab
; 129(4): 272-277, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32151545
9.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31326288
10.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J Am Soc Nephrol
; 29(7): 1849-1858, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29654216
11.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Hum Mutat
; 39(11): 1569-1580, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30311390
12.
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
J Cell Sci
; 129(10): 1975-80, 2016 05 15.
Article
in English
| MEDLINE | ID: mdl-27034136
13.
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2â¯months to 2â¯years of age with urea cycle disorders.
Mol Genet Metab
; 125(3): 251-257, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30217721
14.
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.
Mol Genet Metab
; 122(3): 46-53, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28916119
15.
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1789, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34302123
16.
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
17.
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Mol Genet Metab
; 116(1-2): 29-34, 2015.
Article
in English
| MEDLINE | ID: mdl-26296711
18.
Menkes disease in affected females: the clinical disease spectrum.
Am J Med Genet A
; 167A(2): 417-20, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25428120
19.
Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.
Mol Genet Metab
; 112(1): 17-24, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24630270
20.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Mol Genet Metab
; 112(2): 87-122, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24667081