Schaper J - Search Results

1

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.

Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Assmann B, et al. Among authors: schaper j. Neuropediatrics. 2006 Feb;37(1):20-5. doi: 10.1055/s-2006-923933. Neuropediatrics. 2006. PMID: 16541364

2

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. Among authors: schaper j. 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.

3

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. Among authors: schaper j. Am J Med Genet. 2000 Nov 27;95(3):241-6. Am J Med Genet. 2000. PMID: 11102931

4

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: schaper j. Neuromuscul Disord. 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. Neuromuscul Disord. 2001. PMID: 11166161

5

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

Voit T, Parano E, Straub V, Schröder JM, Schaper J, Pavone P, Falsaperla R, Pavone L, Herrmann R. Voit T, et al. Among authors: schaper j. Neuromuscul Disord. 2002 Oct;12(7-8):623-30. doi: 10.1016/s0960-8966(02)00018-4. Neuromuscul Disord. 2002. PMID: 12207929

6

Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.

Klinge L, Schaper J, Wieczorek D, Voit T. Klinge L, et al. Among authors: schaper j. Neuropediatrics. 2002 Dec;33(6):309-13. doi: 10.1055/s-2002-37086. Neuropediatrics. 2002. PMID: 12571786

7

Biotinidase deficiency: a treatable leukoencephalopathy.

Grünewald S, Champion MP, Leonard JV, Schaper J, Morris AA. Grünewald S, et al. Among authors: schaper j. Neuropediatrics. 2004 Aug;35(4):211-6. doi: 10.1055/s-2004-821080. Neuropediatrics. 2004. PMID: 15328559

8

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.

Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Görlinger K, Wallot M, Richards S, Voit T. Klinge L, et al. Among authors: schaper j. Neuromuscul Disord. 2005 Jan;15(1):24-31. doi: 10.1016/j.nmd.2004.10.009. Epub 2004 Nov 26. Neuromuscul Disord. 2005. PMID: 15639117 Clinical Trial.

9

Aplasia cutis congenita of the scalp: how much therapy is necessary in large defects?

Bernbeck B, Schwabe J, Groninger A, Schaper J, Messing-Jünger H, Mayatepek E, Rosenbaum T. Bernbeck B, et al. Among authors: schaper j. Acta Paediatr. 2005 Jun;94(6):758-60. doi: 10.1111/j.1651-2227.2005.tb01977.x. Acta Paediatr. 2005. PMID: 16188781

10

Persistent right umbilical vein associated with complex congenital cardiac malformation.

Hoehn T, Lueder M, Schmidt KG, Schaper J, Mayatepek E. Hoehn T, et al. Among authors: schaper j. Am J Perinatol. 2006 Apr;23(3):181-2. doi: 10.1055/s-2006-934096. Epub 2006 Mar 29. Am J Perinatol. 2006. PMID: 16586233

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