Rocha H - Search Results

1

Pilot Study on Newborn Screening for Spinal Muscular Atrophy.

Fonseca H, Ribeiro D, Guimarães F, Pinto C, Marcão A, Sousa C, Carvalho I, Lopes L, Rodrigues D, Rocha H, Vilarinho L. Fonseca H, et al. Among authors: rocha h. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122955. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711122

2

Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis.

Braga AC, Vilarinho L, Ferreira E, Rocha H. Braga AC, et al. Among authors: rocha h. J Pediatr Gastroenterol Nutr. 1997 Feb;24(2):218-21. doi: 10.1097/00005176-199702000-00018. J Pediatr Gastroenterol Nutr. 1997. PMID: 9106111 No abstract available.

3

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients.

Vilarinho L, Chorão R, Cardoso ML, Rocha H, Nogueira C, Santorelli FM. Vilarinho L, et al. Among authors: rocha h. J Inherit Metab Dis. 1999 Feb;22(1):90-1. doi: 10.1023/a:1005471904710. J Inherit Metab Dis. 1999. PMID: 10070626 No abstract available.

4

Clinical and molecular studies in three Portuguese mtDNA T8993G families.

Vilarinho L, Leão E, Barbot C, Santos M, Rocha H, Santorelli FM. Vilarinho L, et al. Among authors: rocha h. Pediatr Neurol. 2000 Jan;22(1):29-32. doi: 10.1016/s0887-8994(99)00113-7. Pediatr Neurol. 2000. PMID: 10669202

5

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).

Rocha H, Cabral A, Vilarinho L. Rocha H, et al. Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L. Hum Mutat. 2000. PMID: 11058918 No abstract available.

6

Outcome of three cases of untreated maternal glutaric aciduria type I.

Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Garcia P, et al. Among authors: rocha h. Eur J Pediatr. 2008 May;167(5):569-73. doi: 10.1007/s00431-007-0556-2. Epub 2007 Jul 28. Eur J Pediatr. 2008. PMID: 17661081

7

Four years of expanded newborn screening in Portugal with tandem mass spectrometry.

Vilarinho L, Rocha H, Sousa C, Marcão A, Fonseca H, Bogas M, Osório RV. Vilarinho L, et al. Among authors: rocha h. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S133-8. doi: 10.1007/s10545-010-9048-z. Epub 2010 Feb 23. J Inherit Metab Dis. 2010. PMID: 20177789

8

Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.

Rocha H, Ferreira R, Carvalho J, Vitorino R, Santa C, Lopes L, Gregersen N, Vilarinho L, Amado F. Rocha H, et al. J Proteomics. 2011 Dec 10;75(1):221-8. doi: 10.1016/j.jprot.2011.04.025. Epub 2011 May 7. J Proteomics. 2011. PMID: 21596162

9

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.

Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ. Vilarinho L, et al. Among authors: rocha h. Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13. Mol Genet Metab. 2012. PMID: 22579592

10

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T. Antunes AP, et al. Among authors: rocha h. J Clin Neuromuscul Dis. 2013 Dec;15(2):69-72. doi: 10.1097/CND.0000000000000012. J Clin Neuromuscul Dis. 2013. PMID: 24263034

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