Detalhe da pesquisa
1.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
2.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
3.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Mol Genet Metab
; 138(3): 107525, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796138
4.
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Mol Genet Metab
; 132(2): 146-153, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33485800
5.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Clin Genet
; 100(2): 227-233, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963760
6.
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Pediatr Diabetes
; 22(7): 960-968, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387403
7.
Clinical trials in mitochondrial disorders, an update.
Mol Genet Metab
; 131(1-2): 1-13, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129691
8.
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Am J Med Genet A
; 182(9): 2077-2084, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656927
9.
Survival and Neurologic Recovery After Prompt Diagnosis and Aggressive Management of Severe Idiopathic Hyperammonemic Encephalopathy in a Patient with Acute Myeloid Leukemia.
J Pediatr Hematol Oncol
; 42(6): e452-e455, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31415019
10.
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Mol Genet Metab
; 128(4): 431-443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31757659
11.
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
Am J Med Genet A
; 179(5): 803-807, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848071
12.
Improved standards for prenatal diagnosis of citrullinemia.
Mol Genet Metab
; 112(3): 205-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889030
13.
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Am J Med Genet A
; 164A(2): 500-4, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311450
14.
Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
Res Sq
; 2023 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168160
15.
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.
JIMD Rep
; 63(4): 309-315, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822097
16.
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Heart Rhythm
; 19(10): 1673-1681, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568137
17.
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
J Pediatr
; 158(4): 655-659.e2, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21168152
18.
Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
J Child Neurol
; 36(10): 841-852, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33900143
19.
L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.
Mol Genet Metab Rep
; 19: 100453, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740308
20.
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.
Pediatr Neurol
; 52(3): 361-5, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25591832