Výsledky vyhledávání - "Bakker, H. D."

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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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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Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation--a sib observation

Autor: Bakker, H. D., Hennekam, R. C.

Publikováno v: American journal of medical genetics, 70(3), 312-314. Wiley-Liss Inc.

We report on two brothers with relatively short limbs, macrocephaly, high and narrow forehead, frontal upsweep of hairline, hypotelorism, broad but short ears, straight back, and mild hypermobility of all joints. Both were hypotonic neonatally and ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::2c9a93cf9b7b4f51e0124ecccc756ada
https://pure.amc.nl/en/publications/macrocephaly-facial-abnormalities-disproportionate-tall-stature-and-mental-retardationa-sib-observation(eb995c5f-34a2-4e27-ad5b-e578f9294212).html

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