Huizing M - Search Results

1

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Among authors: huizing m. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507

2

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Among authors: huizing m. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156

3

Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex.

Trijbels FJ, Ruitenbeek W, Huizing M, Wendel U, Smeitink JA, Sengers RC. Trijbels FJ, et al. Among authors: huizing m. Mol Cell Biochem. 1997 Sep;174(1-2):243-7. Mol Cell Biochem. 1997. PMID: 9309695 Review.

4

Disturbances in mitochondrial transport systems leading to encephalomyopathies.

Trijbels F, Huizing M, Ruitenbeek W, Sengers R, Smeitink J, DePinto V, Wendel U. Trijbels F, et al. Among authors: huizing m. Biofactors. 1998;7(3):225-7. doi: 10.1002/biof.5520070313. Biofactors. 1998. PMID: 9568253 Review. No abstract available.

5

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.

Jordens EZ, Palmieri L, Huizing M, van den Heuvel LP, Sengers RC, Dörner A, Ruitenbeek W, Trijbels FJ, Valsson J, Sigfusson G, Palmieri F, Smeitink JA. Jordens EZ, et al. Among authors: huizing m. Ann Neurol. 2002 Jul;52(1):95-9. doi: 10.1002/ana.10214. Ann Neurol. 2002. PMID: 12112053

6

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F. Huizing M, et al. Am J Hum Genet. 1997 Dec;61(6):1239-45. doi: 10.1086/301628. Am J Hum Genet. 1997. PMID: 9399886 Free PMC article.

7

Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

Huizing M, Wendel U, Ruitenbeek W, Iacobazzi V, IJlst L, Veenhuizen P, Savelkoul P, van den Heuvel LP, Smeitink JA, Wanders RJ, Trijbels JM, Palmieri F. Huizing M, et al. J Inherit Metab Dis. 1998 Jun;21(3):262-7. doi: 10.1023/a:1005324323401. J Inherit Metab Dis. 1998. PMID: 9686371 No abstract available.

8

Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.

Huizing M, Ruitenbeek W, van den Heuvel LP, Dolce V, Iacobazzi V, Smeitink JA, Palmieri F, Trijbels JM. Huizing M, et al. J Bioenerg Biomembr. 1998 Jun;30(3):277-84. doi: 10.1023/a:1020501021222. J Bioenerg Biomembr. 1998. PMID: 9733094

9

Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ. Voermans NC, et al. Among authors: huizing m. Clin Neuropathol. 2010 Mar-Apr;29(2):71-7. Clin Neuropathol. 2010. PMID: 20175955 Free PMC article.

10

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.

Contopoulos-Ioannidis D, Evangeliou A, ter Laak H, de Vries B, Pfundt R, Scheffer H, Smeitink J, Tzoufi M, Makis A, Marinos E, Hess R, Adams D, Huizing M, Morava E. Contopoulos-Ioannidis D, et al. Among authors: huizing m. Am J Med Genet A. 2008 Dec 1;146A(23):3100-3. doi: 10.1002/ajmg.a.32569. Am J Med Genet A. 2008. PMID: 19006216 Free PMC article. No abstract available.

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