Jardim LB - Search Results

1

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.

Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R. Vieira TA, et al. Among authors: jardim lb. Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10. Genet Mol Biol. 2019. PMID: 31188934 Free PMC article.

2

Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?

Jardim LB, Giugliani R, Fensom AH. Jardim LB, et al. Neuropediatrics. 1992 Feb;23(1):30-1. doi: 10.1055/s-2008-1071308. Neuropediatrics. 1992. PMID: 1565214

3

CT hypodensity on cerebral white matter in Wilson's disease.

Jardim LB, Carneiro A, Hansel S, Rieder CR, Giugliani R. Jardim LB, et al. Arq Neuropsiquiatr. 1991 Jun;49(2):211-4. doi: 10.1590/s0004-282x1991000200017. Arq Neuropsiquiatr. 1991. PMID: 1810242

4

Early and unusual presentation of type I primary hyperoxaluria.

Giugliani R, Jardim L, Edelweiss MI, Rosa A. Giugliani R, et al. Child Nephrol Urol. 1990;10(2):107-8. Child Nephrol Urol. 1990. PMID: 2253247

5

Pyridoxine-dependent seizures associated with white matter abnormalities.

Jardim LB, Pires RF, Martins CE, Vargas CR, Vizioli J, Kliemann FA, Giugliani R. Jardim LB, et al. Neuropediatrics. 1994 Oct;25(5):259-61. doi: 10.1055/s-2008-1073032. Neuropediatrics. 1994. PMID: 7885536

6

Possible high frequency of tetrahydrobiopterin deficiency in south Brazil.

Jardim LB, Giugliani R, Coelho JC, Dutra-Filho CS, Blau N. Jardim LB, et al. J Inherit Metab Dis. 1994;17(2):223-9. doi: 10.1007/BF00711622. J Inherit Metab Dis. 1994. PMID: 7967477

7

Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.

Jardim LB, Palma-Dias R, Silva LC, Ashton-Prolla P, Giugliani R. Jardim LB, et al. Acta Paediatr. 1996 Aug;85(8):943-6. doi: 10.1111/j.1651-2227.1996.tb14191.x. Acta Paediatr. 1996. PMID: 8863876

8

Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria.

Silva LC, Pires RF, Coelho JC, Jardim LB, Giugliani R. Silva LC, et al. Among authors: jardim lb. Clin Genet. 1997 Apr;51(4):231-5. doi: 10.1111/j.1399-0004.1997.tb02460.x. Clin Genet. 1997. PMID: 9184243

9

Protracted course of Krabbe disease in an adult patient bearing a novel mutation.

Jardim LB, Giugliani R, Pires RF, Haussen S, Burin MG, Rafi MA, Wenger DA. Jardim LB, et al. Arch Neurol. 1999 Aug;56(8):1014-7. doi: 10.1001/archneur.56.8.1014. Arch Neurol. 1999. PMID: 10448809

10

Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n.

Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Jardim LB, et al. Arch Neurol. 2001 Jun;58(6):899-904. doi: 10.1001/archneur.58.6.899. Arch Neurol. 2001. PMID: 11405804

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