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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

Autor: Körver-Keularts, I. M. L. W., de Visser, M., Bakker, H. D., Wanders, R. J. A., Vansenne, F., Scholte, H. R., Dorland, L., Nicolaes, G. A. F., Spaapen, L. M. J., Smeets, H. J. M., Hendrickx, A. T. M., van den Bosch, B. J. C.

Publikováno v: JIMD reports, 22, 39-45. Springer
JIMD reports, 22, 39-45. Springer Berlin

In a 28-year-old male with a mild mitochondrial myopathy manifesting as exercise intolerance and early signs of cardiomyopathy without muscle weakness or ophthalmoplegia, we identified two novel mutations in the SLC25A4 gene: c.707G>C in exon 3 (p.(R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1e372dcde60003c3668515cbc3b23047
https://cris.maastrichtuniversity.nl/en/publications/a468debc-6355-437e-8153-59570e4aaecc

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Van gen naar ziekte; galactosemie en galactose-I-fosfaaturidyltransferasedeficiëntie

Autor: Bosch, A. M., Waterham, H. R., Bakker, H. D.

Publikováno v: Nederlands tijdschrift voor geneeskunde, 148(2), 80-81. Bohn Stafleu van Loghum

Classical galactosaemia (Mendelian Inheritance in Man, no 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). The GALT enzyme is responsible for the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::05a6f193b8a23d93a552f0ba6345f0a1
https://pure.amc.nl/en/publications/van-gen-naar-ziekte-galactosemie-en-galactoseifosfaaturidyltransferasedeficientie(fdd69c14-98b1-41e2-a5b5-b72d483b7bb7).html

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Quality of life, anxiety and concerns among statin-treated children with familial hypercholesterolaemia and their parents

Autor: de Jongh, S., Kerckhoffs, M. C., Grootenhuis, M. A., Bakker, H. D., Heymans, H. S. A., Last, B. F.

Publikováno v: Acta paediatrica (Oslo, Norway, 92(9), 1096-1101. Wiley-Blackwell

Aim: To assess the quality of life, anxiety and concerns among statin-treated children with familial hypercholesterolaemia (FH) and their parents. Methods: 69 FH children on statin therapy and 87 parents (51 families) participated in this study. Qual

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::4148ec901ab78cc04af73961ff48105b
https://pure.amc.nl/en/publications/quality-of-life-anxiety-and-concerns-among-statintreated-children-with-familial-hypercholesterolaemia-and-their-parents(521c46a5-4bf5-43cf-a14c-a38f406e4818).html

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Clinical features of galactokinase deficiency: a review of the literature

Autor: Bosch, A. M., Bakker, H. D., van Gennip, A. H., van Kempen, J. V., Wanders, R. J. A., Wijburg, F. A.

Publikováno v: Journal of inherited metabolic disease, 25(8), 629-634. Springer Netherlands

Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive inborn error of galactose metabolism. Cataract and, rarely, pseudotumor cerebri caused by galactitol accumulation seem to be the only consistently reported abnormalities in this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::6445bab91e766342ecc274358480b47c
https://pure.amc.nl/en/publications/clinical-features-of-galactokinase-deficiency-a-review-of-the-literature(0d25478a-7b31-4370-aa4f-15e16ddea7f5).html

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MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme a lyase deficiency

Autor: van der Knaap, M S, Bakker, H D, Valk, J

Publikováno v: American Journal of Neuroradiology, 19(2), 378-382. American Society of Neuroradiology
Van Der Knaap, M S, Bakker, H D & Valk, J 1998, ' MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme a lyase deficiency ', American Journal of Neuroradiology, vol. 19, no. 2, pp. 378-382 .
AJNR Am J Neuroradiol

Three patients with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency were examined with MR imaging and proton MR spectroscopy. In two patients, both clinically normal, MR images showed a diffuse mild abnormality in signal intensity of the cereb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::eda8cbd1ee6f2019d454e4785eb2b6e8
https://research.vumc.nl/en/publications/6c1a4bac-e85e-4c8e-babe-f5f5b0117812

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Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome

Autor: Bosch, A. M., Sillevis Smitt, J. H., van Gennip, A. H., Abeling, N. G., Schutgens, R. B., Bakker, H. D., Wijburg, F. A.

Publikováno v: British journal of dermatology, 139(3), 488-491. Wiley-Blackwell

We present two patients with a suspected inborn error of metabolism. A female newborn presented with dysmorphic features and convulsions. Metabolic screening suggested a defect in isoleucine degradation. Within 2 weeks after the introduction of an is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::0e5e71ce4bbac3e12c247f90f3b72cd0
https://pure.amc.nl/en/publications/iatrogenic-isolated-isoleucine-deficiency-as-the-cause-of-an-acrodermatitis-enteropathicalike-syndrome(8204afb4-5484-4fce-abec-ef3109a46720).html

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