Penzien J - Search Results

1

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M, Giuliano F, Jurgens J, Krabichler B, Koolen DA, de Macena Sobreira NL, Maurer E, Muller-Bolla M, Penzien J, Zschocke J, Kapferer-Seebacher I. Schossig A, et al. Among authors: penzien j. J Med Genet. 2017 Jan;54(1):54-62. doi: 10.1136/jmedgenet-2016-103988. Epub 2016 Sep 6. J Med Genet. 2017. PMID: 27600704 Clinical Trial.

2

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J. Uyanik G, et al. Among authors: penzien j. Neurology. 2006 Apr 11;66(7):1044-8. doi: 10.1212/01.wnl.0000204181.31175.8b. Neurology. 2006. PMID: 16606917

3

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, Zschocke J, Hoffmann GF, Burgard P. Haas D, et al. Among authors: penzien jm. J Inherit Metab Dis. 2007 Jun;30(3):375-87. doi: 10.1007/s10545-007-0537-7. Epub 2007 May 11. J Inherit Metab Dis. 2007. PMID: 17497248 Clinical Trial.

4

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

Hayflick SJ, Penzien JM, Michl W, Sharif UM, Rosman NP, Wheeler PG. Hayflick SJ, et al. Among authors: penzien jm. Pediatr Neurol. 2001 Aug;25(2):166-9. doi: 10.1016/s0887-8994(01)00296-x. Pediatr Neurol. 2001. PMID: 11551748

5

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.

Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S, et al. Penzien JM, et al. Am J Hum Genet. 1993 Mar;52(3):557-64. Am J Hum Genet. 1993. PMID: 8095368 Free PMC article.

6

MRI in Smith-Lemli-Opitz syndrome type 1.

Penzien JM, Hoffmann GF. Penzien JM, et al. Childs Nerv Syst. 1997 Oct;13(10):505-6. doi: 10.1007/s003810050125. Childs Nerv Syst. 1997. PMID: 9403196 No abstract available.

7

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.

Blau N, Thöny B, Renneberg A, Penzien JM, Hyland K, Hoffmann GF. Blau N, et al. Among authors: penzien jm. J Inherit Metab Dis. 1999 May;22(3):216-20. doi: 10.1023/a:1005584627797. J Inherit Metab Dis. 1999. PMID: 10384371 No abstract available.

8

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy.

Peters V, Penzien JM, Reiter G, Körner C, Hackler R, Assmann B, Fang J, Schaefer JR, Hoffmann GF, Heidemann PH. Peters V, et al. Among authors: penzien jm. Neuropediatrics. 2002 Feb;33(1):27-32. doi: 10.1055/s-2002-23597. Neuropediatrics. 2002. PMID: 11930273

9

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. Guillard M, et al. Among authors: penzien j. J Pediatr. 2011 Dec;159(6):1041-3.e2. doi: 10.1016/j.jpeds.2011.08.007. Epub 2011 Sep 13. J Pediatr. 2011. PMID: 21920538 Free article.

10

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.

Echenne B, Roubertie A, Assmann B, Lutz T, Penzien JM, Thöny B, Blau N, Hoffmann GF. Echenne B, et al. Pediatr Neurol. 2006 Nov;35(5):308-13. doi: 10.1016/j.pediatrneurol.2006.05.006. Pediatr Neurol. 2006. PMID: 17074599

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