Van Maldergem L - Search Results

1

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e, van maldergem l. Arch Dis Child. 1996 Jun;74(6):542-5. doi: 10.1136/adc.74.6.542. Arch Dis Child. 1996. PMID: 8758134 Free PMC article.

2

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Frijns JP, Alliet P, Foulon M, Carchon H, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e, van maldergem l. J Inherit Metab Dis. 1996;19(2):223-6. doi: 10.1007/BF01799435. J Inherit Metab Dis. 1996. PMID: 8739971 No abstract available.

3

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R. Klomp LW, et al. Among authors: van beurden ea, van den berg ie, van maldergem l. Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055895 Free PMC article.

4

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS. de Koning TJ, et al. Among authors: van maldergem l, van der knaap ms. Neuropediatrics. 2000 Dec;31(6):287-92. doi: 10.1055/s-2000-12944. Neuropediatrics. 2000. PMID: 11508546

5

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.

De Koning TJ, Duran M, Van Maldergem L, Pineda M, Dorland L, Gooskens R, Jaeken J, Poll-The BT. De Koning TJ, et al. Among authors: van maldergem l. J Inherit Metab Dis. 2002 May;25(2):119-25. doi: 10.1023/a:1015624726822. J Inherit Metab Dis. 2002. PMID: 12118526

6

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L. Wuyts W, et al. Among authors: van maldergem l, van hul w. Am J Med Genet. 2002 Dec 15;113(4):326-32. doi: 10.1002/ajmg.10845. Am J Med Genet. 2002. PMID: 12457403

7

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Van Maldergem L, et al. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20. Neurology. 2008. PMID: 18716235 Free article.

8

An update on serine deficiency disorders.

van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ. van der Crabben SN, et al. Among authors: van maldergem l. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6. J Inherit Metab Dis. 2013. PMID: 23463425

9

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S. Bruun TUJ, et al. Among authors: van maldergem l. Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12. Metab Brain Dis. 2018. PMID: 29435807

10

Coenzyme Q-responsive Leigh's encephalopathy in two sisters.

Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, Delberghe X, Martin JJ, Gillerot Y. Van Maldergem L, et al. Ann Neurol. 2002 Dec;52(6):750-4. doi: 10.1002/ana.10371. Ann Neurol. 2002. PMID: 12447928

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