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1.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37207470
2.
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.
Am J Med Genet A
; 188(7): 2209-2216, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35365979
3.
Solvent accessibility of E1α and E1ß residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
J Inherit Metab Dis
; 45(3): 557-570, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35038180
4.
Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.
J Chem Inf Model
; 62(14): 3463-3475, 2022 07 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-35797142
5.
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 44(4): 926-938, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33543789
6.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31018246
7.
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 122(3): 61-66, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28918066
8.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 120(4): 342-349, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28202214
9.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Mol Genet Metab
; 120(3): 213-222, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27913098
10.
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Mol Genet Metab
; 119(1-2): 50-6, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27397597
11.
Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence.
Hum Brain Mapp
; 35(2): 646-58, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23124623
12.
A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report.
Mol Genet Metab Rep
; 38: 101058, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38469098
13.
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Mol Genet Genomic Med
; 12(1): e2283, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37688338
14.
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Mol Genet Genomic Med
; 12(4): e2443, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38634223
15.
The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: a preliminary report.
Neuroimage
; 59(3): 2760-70, 2012 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22032950
16.
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.
Am J Med Genet A
; 155A(1): 154-63, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21204225
17.
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
Eur J Paediatr Neurol
; 31: 27-30, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33592356
18.
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
J Endocr Soc
; 5(2): bvaa196, 2021 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33490854
19.
Duplication 16p11.2 in a child with infantile seizure disorder.
Am J Med Genet A
; 152A(6): 1567-74, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20503337
20.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
JIMD Rep
; 56(1): 70-81, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33204598