Huijmans JG - Search Results

1

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Among authors: huijmans jg. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

2

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. Among authors: huijmans jg. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.

3

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM. de Wit MC, et al. Among authors: huijmans jg. Mol Genet Metab. 2006 Feb;87(2):102-6. doi: 10.1016/j.ymgme.2005.09.009. Epub 2005 Nov 4. Mol Genet Metab. 2006. PMID: 16275149

4

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS. Huijmans JGM, et al. Am J Med Genet A. 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240. Am J Med Genet A. 2017. PMID: 28544736

5

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.

de Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M. de Klerk JB, et al. Among authors: huijmans jg. Neuropediatrics. 1997 Dec;28(6):314-7. doi: 10.1055/s-2007-973722. Neuropediatrics. 1997. PMID: 9453028

6

Pitfalls in the diagnosis of multiple sulfatase deficiency.

Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Mancini GM, et al. Among authors: huijmans jg. Neuropediatrics. 2001 Feb;32(1):38-40. doi: 10.1055/s-2001-12213. Neuropediatrics. 2001. PMID: 11315200

7

Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia.

Coker M, Duran M, De Klerk JB, Kleijer WJ, Jakobs C, Huijmans JG. Coker M, et al. Among authors: huijmans jg. Prenat Diagn. 1996 Oct;16(10):941-4. doi: 10.1002/(SICI)1097-0223(199610)16:10<941::AID-PD965>3.0.CO;2-T. Prenat Diagn. 1996. PMID: 8938066

8

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters.

Kleijer WJ, van der Kraan M, Huijmans JG, van den Heuvel CM, Jakobs C. Kleijer WJ, et al. Among authors: huijmans jg. Prenat Diagn. 1995 Jun;15(6):527-33. doi: 10.1002/pd.1970150605. Prenat Diagn. 1995. PMID: 7659686 Free article.

9

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.

Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP. Mancini GM, et al. Among authors: huijmans jg. Dermatology. 1999;198(1):18-25. doi: 10.1159/000018058. Dermatology. 1999. PMID: 10026396

10

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.

Huijmans JG, Duran M, de Klerk JB, Rovers MJ, Scholte HR. Huijmans JG, et al. Pediatrics. 2000 Sep;106(3):596-600. doi: 10.1542/peds.106.3.596. Pediatrics. 2000. PMID: 10969108 Free article.

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