Detalhe da pesquisa
1.
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Am J Hum Genet
; 99(6): 1388-1394, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889061
2.
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
Am J Med Genet A
; 179(6): 1015-1019, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30864297
3.
Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report.
Paediatr Anaesth
; 28(3): 296-297, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316010
4.
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.
Hum Mutat
; 38(11): 1485-1490, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28722276
5.
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
Am J Med Genet A
; 173(10): 2776-2781, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28817240
6.
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
J Neuroophthalmol
; 41(1): e27-e30, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235217
7.
Inborn Errors of Metabolism (Metabolic Disorders).
Pediatr Rev
; 37(1): 3-15; quiz 16-7, 47, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26729777
8.
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.
Lancet
; 384(9937): 37-44, 2014 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24743000
9.
Phenotype of FOXP2 haploinsufficiency in a mother and son.
Am J Med Genet A
; 158A(1): 174-81, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22106036
10.
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
11.
A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome.
Cleft Palate Craniofac J
; 47(3): 314-7, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19860531
12.
Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.
Clin Case Rep
; 7(6): 1154-1160, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31183085
13.
Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.
Public Health Rep
; 134(2_suppl): 58S-63S, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31682555
14.
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
Am J Med Genet A
; 146A(22): 2885-90, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925679
15.
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.
Mol Genet Metab Rep
; 8: 4-7, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649556
16.
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.
Am J Clin Nutr
; 104(2): 334-45, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27413125
17.
Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria.
Mol Genet Metab Rep
; 6: 21-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014575
18.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Neurology
; 87(1): 77-85, 2016 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27281533
19.
Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
Hum Genet
; 126(2): 341, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19694025
20.
Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
Hum Genet
; 126(2): 342, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19694026