Barth PG - Search Results

1

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.

Kemp S, Mooyer PA, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJ. Kemp S, et al. Among authors: barth pg. J Inherit Metab Dis. 1996;19(5):667-74. doi: 10.1007/BF01799844. J Inherit Metab Dis. 1996. PMID: 8892025

2

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA. Ligtenberg MJ, et al. Among authors: barth pg. Am J Hum Genet. 1995 Jan;56(1):44-50. Am J Hum Genet. 1995. PMID: 7825602 Free PMC article.

3

Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds.

van Geel BM, Assies J, Weverling GJ, Barth PG. van Geel BM, et al. Among authors: barth pg. Neurology. 1994 Dec;44(12):2343-6. doi: 10.1212/wnl.44.12.2343. Neurology. 1994. PMID: 7991123

4

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Wolterman RA, Schoute F, Sarde CO, Mandel JL, van Oost BA, Bolhuis PA. Kemp S, et al. Among authors: barth pg. Biochem Biophys Res Commun. 1994 Jul 29;202(2):647-53. doi: 10.1006/bbrc.1994.1979. Biochem Biophys Res Commun. 1994. PMID: 8048932

5

Delay in diagnosis of X-linked adrenoleukodystrophy.

van Geel BM, Assies J, Haverkort EB, Barth PG, Wanders RJ, Schutgens RB, Keyser A, Zwetsloot CP. van Geel BM, et al. Among authors: barth pg. Clin Neurol Neurosurg. 1993 Jun;95(2):115-20. doi: 10.1016/0303-8467(93)90004-z. Clin Neurol Neurosurg. 1993. PMID: 8344008

6

Two intronic mutations in the adrenoleukodystrophy gene.

Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Sarde CO, van Oost BA, Bolhuis PA. Kemp S, et al. Among authors: barth pg. Hum Mutat. 1995;6(3):272-3. doi: 10.1002/humu.1380060316. Hum Mutat. 1995. PMID: 8535452 No abstract available.

7

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts.

Barth PG, Van den Bogert C, Bolhuis PA, Scholte HR, van Gennip AH, Schutgens RB, Ketel AG. Barth PG, et al. J Inherit Metab Dis. 1996;19(2):157-60. doi: 10.1007/BF01799418. J Inherit Metab Dis. 1996. PMID: 8739954 Free article. No abstract available.

8

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

van Geel BM, Assies J, Wanders RJ, Barth PG. van Geel BM, et al. Among authors: barth pg. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):4-14. doi: 10.1136/jnnp.63.1.4. J Neurol Neurosurg Psychiatry. 1997. PMID: 9221959 Free PMC article. Review.

9

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. Barth PG, et al. J Inherit Metab Dis. 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936. J Inherit Metab Dis. 1999. PMID: 10407787 Review.

10

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil".

van Geel BM, Assies J, Haverkort EB, Koelman JH, Verbeeten B Jr, Wanders RJ, Barth PG. van Geel BM, et al. Among authors: barth pg. J Neurol Neurosurg Psychiatry. 1999 Sep;67(3):290-9. doi: 10.1136/jnnp.67.3.290. J Neurol Neurosurg Psychiatry. 1999. PMID: 10449548 Free PMC article. Clinical Trial.

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