Huijmans JG - Search Results

1

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

2

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

3

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

4

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

5

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.

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

[Lactic acidosis and accumulation of glutamate in the blood of neonates following treatment with calcium levulinate for hypocalcaemia].

Williams M, Huijmans JG, Duran M, de Klerk JB, van Maldegem BT, Poll-The BT. Williams M, et al. Among authors: huijmans jg. Ned Tijdschr Geneeskd. 2007 May 26;151(21):1191-6. Ned Tijdschr Geneeskd. 2007. PMID: 17557760 Dutch.

8

Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.

Coker M, de Klerk JB, Poll-The BT, Huijmans JG, Duran M. Coker M, et al. Among authors: huijmans jg. J Inherit Metab Dis. 1996;19(6):743-51. doi: 10.1007/BF01799166. J Inherit Metab Dis. 1996. PMID: 8982947

9

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

10

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

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