Jaeken J - Search Results

1

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. Kurt B, et al. Among authors: jaeken j. Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. Arch Neurol. 2010. PMID: 20142534 Free PMC article.

2

Acute hydrocephalus in nonketotic hyperglycinemia.

Van Hove JL, Kishnani PS, Demaerel P, Kahler SG, Miller C, Jaeken J, Rutledge SL. Van Hove JL, et al. Among authors: jaeken j. Neurology. 2000 Feb 8;54(3):754-6. doi: 10.1212/wnl.54.3.754. Neurology. 2000. PMID: 10680820

3

G protein diseases: newly recognized causes of metabolic encephalopathy.

Jaeken JC, Freson K, Goemans NM, De Cock PP, De Vos RM, Lagae LG, Van Geet CA. Jaeken JC, et al. Eur J Paediatr Neurol. 2003;7(5):211-5. doi: 10.1016/s1090-3798(03)00102-8. Eur J Paediatr Neurol. 2003. PMID: 14511624 No abstract available.

4

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA. Grünewald S, et al. Among authors: jaeken j. Ann Neurol. 2000 Jun;47(6):776-81. Ann Neurol. 2000. PMID: 10852543

5

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).

Van Hove JL, Grünewald S, Jaeken J, Demaerel P, Declercq PE, Bourdoux P, Niezen-Koning K, Deanfeld JE, Leonard JV. Van Hove JL, et al. Among authors: jaeken j. Lancet. 2003 Apr 26;361(9367):1433-5. doi: 10.1016/S0140-6736(03)13105-4. Lancet. 2003. PMID: 12727399

6

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Padmakumar M, Jaeken J, Ramaekers V, Lagae L, Greene D, Thys C, Van Geet C, BioResource N, Stirrups K, Downes K, Turro E, Freson K. Padmakumar M, et al. Among authors: jaeken j. JIMD Rep. 2019 Mar 25;47(1):9-16. doi: 10.1002/jmd2.12030. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240161 Free PMC article.

7

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.

Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M. Van Hove JL, et al. Among authors: jaeken j. Am J Med Genet A. 2005 Jan 15;132A(2):152-8. doi: 10.1002/ajmg.a.30430. Am J Med Genet A. 2005. PMID: 15558713

8

Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.

Casteels I, Spileers W, Leys A, Lagae L, Jaeken J. Casteels I, et al. Among authors: jaeken j. Br J Ophthalmol. 1996 Oct;80(10):900-2. doi: 10.1136/bjo.80.10.900. Br J Ophthalmol. 1996. PMID: 8976701 Free PMC article.

9

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. Among authors: jaeken j. 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.

10

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Van Hove JL, Vande Kerckhove K, Hennermann JB, Mahieu V, Declercq P, Mertens S, De Becker M, Kishnani PS, Jaeken J. Van Hove JL, et al. Among authors: jaeken j. J Inherit Metab Dis. 2005;28(5):651-63. doi: 10.1007/s10545-005-0033-x. J Inherit Metab Dis. 2005. PMID: 16151895

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

436 results

Search Page