Smeitink JA - Search Results

1

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Wortmann SB, et al. Among authors: smeitink ja. Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642805 Free article.

2

Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia.

Smeitink J, Stadhouders A, Sengers R, Ruitenbeek W, Wevers R, ter Laak H, Trijbels F. Smeitink J, et al. Neuromuscul Disord. 1992;2(1):35-40. doi: 10.1016/0960-8966(92)90024-z. Neuromuscul Disord. 1992. PMID: 1525556

3

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.

Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Smeitink J, et al. J Inherit Metab Dis. 1994;17(1):67-73. doi: 10.1007/BF00735397. J Inherit Metab Dis. 1994. PMID: 8051938

4

Systemic infantile complex I deficiency with fatal outcome in two brothers.

Rubio-Gozalbo ME, Ruitenbeek W, Wendel U, Sengers RC, Trijbels JM, Smeitink JA. Rubio-Gozalbo ME, et al. Among authors: smeitink ja. Neuropediatrics. 1998 Feb;29(1):43-5. doi: 10.1055/s-2007-973533. Neuropediatrics. 1998. PMID: 9553949

5

Biochemical hallmarks of tyrosine hydroxylase deficiency.

Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreëls FJ, Hoffmann GF. Bräutigam C, et al. Among authors: smeitink ja. Clin Chem. 1998 Sep;44(9):1897-904. Clin Chem. 1998. PMID: 9732974

6

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

Willemsen MA, Jira PE, Gabreëls FJ, van der Ploeg AT, Smeitink JA. Willemsen MA, et al. Among authors: smeitink ja. Ned Tijdschr Geneeskd. 1998 Jun 13;142(24):1388-92. Ned Tijdschr Geneeskd. 1998. PMID: 9752027 Dutch.

7

Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.

Rubio-Gozalbo ME, Heerschap A, Trijbels JM, De Meirleir L, Thijssen HO, Smeitink JA. Rubio-Gozalbo ME, et al. Among authors: smeitink ja. Magn Reson Imaging. 1999 Jul;17(6):939-44. doi: 10.1016/s0730-725x(99)00002-8. Magn Reson Imaging. 1999. PMID: 10402601

8

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

Grünewald S, Huyben K, de Jong JG, Smeitink JA, Rubio E, Boers GH, Conradt HS, Wendel U, Wevers RA. Grünewald S, et al. Among authors: smeitink ja. Biochim Biophys Acta. 1999 Sep 20;1455(1):54-60. doi: 10.1016/s0925-4439(99)00078-2. Biochim Biophys Acta. 1999. PMID: 10524229 Free article.

9

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA. Bräutigam C, et al. Among authors: smeitink ja. Clin Chem. 1999 Dec;45(12):2073-8. Clin Chem. 1999. PMID: 10585338

10

I-cell disease presenting with severe hypophosphatemia and cardiomyopathy.

Bocca G, Noordam C, Wevers RA, de Jong JG, van der Meer W, de Keijzer MH, Korver CR, Smeitink JA. Bocca G, et al. Among authors: smeitink ja. Neuropediatrics. 2000 Feb;31(1):49-50. doi: 10.1055/s-2000-15300. Neuropediatrics. 2000. PMID: 10774999 No abstract available.

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