Göhlich-Ratmann G - Search Results

1

cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase.

Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Göhlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH. Vreken P, et al. Among authors: gohlich ratmann g. Biochim Biophys Acta. 1999 Oct 28;1447(2-3):251-7. doi: 10.1016/s0167-4781(99)00182-7. Biochim Biophys Acta. 1999. PMID: 10542323

2

beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.

Moolenaar SH, Göhlich-Ratmann G, Engelke UF, Spraul M, Humpfer E, Dvortsak P, Voit T, Hoffmann GF, Bräutigam C, van Kuilenburg AB, van Gennip A, Vreken P, Wevers RA. Moolenaar SH, et al. Among authors: gohlich ratmann g. Magn Reson Med. 2001 Nov;46(5):1014-7. doi: 10.1002/mrm.1289. Magn Reson Med. 2001. PMID: 11675655 Free article.

3

Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.

Van Kuilenburg AB, Van Lenthe H, Assmann B, Göhlich-Ratmann G, Hoffmann GF, Bräutigam C, Wevers RA, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: gohlich ratmann g. J Inherit Metab Dis. 2001 Dec;24(7):725-32. doi: 10.1023/a:1012997406132. J Inherit Metab Dis. 2001. PMID: 11804209

4

Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency.

Baethmann M, Wendel U, Hoffmann GF, Göhlich-Ratmann G, Kleinlein B, Seiffert P, Blom H, Voit T. Baethmann M, et al. Among authors: gohlich ratmann g. Neuropediatrics. 2000 Dec;31(6):314-7. doi: 10.1055/s-2000-12947. Neuropediatrics. 2000. PMID: 11508552

5

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R. Voit T, et al. Among authors: gohlich ratmann g. Neuromuscul Disord. 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. Neuromuscul Disord. 2001. PMID: 11166161

6

Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency.

Schröder JM, Hackel V, Wanders RJ, Göhlich-Ratmann G, Voit T. Schröder JM, et al. Among authors: gohlich ratmann g. Acta Neuropathol. 2004 Aug;108(2):154-67. doi: 10.1007/s00401-004-0877-4. Epub 2004 May 15. Acta Neuropathol. 2004. PMID: 15235808

7

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?

Göhlich-Ratmann G, Lackner A, Schaper J, Voit T, Gillessen-Kaesbach G. Göhlich-Ratmann G, et al. Am J Med Genet. 2000 Nov 27;95(3):241-6. Am J Med Genet. 2000. PMID: 11102931

8

HMSNL in a 13-year-old Bulgarian girl.

Baethmann M, Göhlich-Ratmann G, Schröder JM, Kalaydjieva L, Voit T. Baethmann M, et al. Among authors: gohlich ratmann g. Neuromuscul Disord. 1998 Apr;8(2):90-4. doi: 10.1016/s0960-8966(98)00011-x. Neuromuscul Disord. 1998. PMID: 9608562

9

Acute cerebellitis with near-fatal cerebellar swelling and benign outcome under conservative treatment with high dose steroids.

Göhlich-Ratmann G, Wallot M, Baethmann M, Schaper J, Roggendorf M, Roll C, Aksu F, Voit T. Göhlich-Ratmann G, et al. Eur J Paediatr Neurol. 1998;2(3):157-62. doi: 10.1016/s1090-3798(98)80032-9. Eur J Paediatr Neurol. 1998. PMID: 10726838 Review.

10

Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome.

Göhlich-Ratmann G, Baethmann M, Lorenz P, Gärtner J, Goebel HH, Engelbrecht V, Christen HJ, Lenard HG, Voit T. Göhlich-Ratmann G, et al. Am J Med Genet. 1998 Sep 23;79(3):161-7. doi: 10.1002/(sici)1096-8628(19980923)79:3<161::aid-ajmg2>3.0.co;2-q. Am J Med Genet. 1998. PMID: 9788554

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