99 related articles for article (PubMed ID: 22507161)
1. Mild case of D-bifunctional protein deficiency associated with novel gene mutations.
Mizumoto H; Akashi R; Hikita N; Kumakura A; Yoshida Y; Honda A; Shimozawa N; Hata D
Pediatr Int; 2012 Apr; 54(2):303-4. PubMed ID: 22507161
[No Abstract] [Full Text] [Related]
2. A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations.
Ghirri P; Vuerich M; Ferdinandusse S; Waterham HR; Guzzetta A; Bianchi MC; Boldrini A; Wanders RJ
Pediatr Int; 2011 Aug; 53(4):583-7. PubMed ID: 21851493
[No Abstract] [Full Text] [Related]
3. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.
Soorani-Lunsing RJ; van Spronsen FJ; Stolte-Dijkstra I; Wanders RJ; Ferdinandusse S; Waterham HR; Poll-The BT; Rake JP
J Inherit Metab Dis; 2005; 28(6):1172-4. PubMed ID: 16435222
[TBL] [Abstract][Full Text] [Related]
4. Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.
Grønborg S; Krätzner R; Spiegler J; Ferdinandusse S; Wanders RJ; Waterham HR; Gärtner J
Am J Med Genet A; 2010 Nov; 152A(11):2845-9. PubMed ID: 20949532
[TBL] [Abstract][Full Text] [Related]
5. Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
van Grunsven EG; Mooijer PA; Aubourg P; Wanders RJ
Hum Mol Genet; 1999 Aug; 8(8):1509-16. PubMed ID: 10400999
[TBL] [Abstract][Full Text] [Related]
6. D-bifunctional protein deficiency associated with drug resistant infantile spasms.
Buoni S; Zannolli R; Waterham H; Wanders R; Fois A
Brain Dev; 2007 Jan; 29(1):51-4. PubMed ID: 16919904
[TBL] [Abstract][Full Text] [Related]
7. Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
McMillan HJ; Worthylake T; Schwartzentruber J; Gottlieb CC; Lawrence SE; Mackenzie A; Beaulieu CL; Mooyer PA; ; Wanders RJ; Majewski J; Bulman DE; Geraghty MT; Ferdinandusse S; Boycott KM
Orphanet J Rare Dis; 2012 Nov; 7():90. PubMed ID: 23181892
[TBL] [Abstract][Full Text] [Related]
8. Lessons from knockout mice II: Mouse models for peroxisomal disorders with single protein deficiency.
Berger J; Kunze M; Forss-Petter S
Adv Exp Med Biol; 2003; 544():123-34. PubMed ID: 14713223
[No Abstract] [Full Text] [Related]
9. Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance.
Nguyen T; Bjorkman J; Paton BC; Crane DI
J Cell Sci; 2006 Feb; 119(Pt 4):636-45. PubMed ID: 16449325
[TBL] [Abstract][Full Text] [Related]
10. Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging.
Khan A; Wei XC; Snyder FF; Mah JK; Waterham H; Wanders RJ
Neuroradiology; 2010 Dec; 52(12):1163-6. PubMed ID: 20848092
[TBL] [Abstract][Full Text] [Related]
11. Molecular basis of D-bifunctional protein deficiency.
Möller G; van Grunsven EG; Wanders RJ; Adamski J
Mol Cell Endocrinol; 2001 Jan; 171(1-2):61-70. PubMed ID: 11165012
[TBL] [Abstract][Full Text] [Related]
12. On the molecular basis of D-bifunctional protein deficiency type III.
Mehtälä ML; Lensink MF; Pietikäinen LP; Hiltunen JK; Glumoff T
PLoS One; 2013; 8(1):e53688. PubMed ID: 23308274
[TBL] [Abstract][Full Text] [Related]
13. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
Ferdinandusse S; Ylianttila MS; Gloerich J; Koski MK; Oostheim W; Waterham HR; Hiltunen JK; Wanders RJ; Glumoff T
Am J Hum Genet; 2006 Jan; 78(1):112-24. PubMed ID: 16385454
[TBL] [Abstract][Full Text] [Related]
14. D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
Nakano K; Zhang Z; Shimozawa N; Kondo N; Ishii N; Funatsuka M; Shirakawa S; Itoh M; Takashima S; Une M; Kana-aki RR; Mukai K; Osawa M; Suzuki Y
J Pediatr; 2001 Dec; 139(6):865-7. PubMed ID: 11743515
[TBL] [Abstract][Full Text] [Related]
15. Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.
Paton BC; Pollard AN
Cell Biochem Biophys; 2000; 32 Spring():247-51. PubMed ID: 11330053
[TBL] [Abstract][Full Text] [Related]
16. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
van Grunsven EG; van Berkel E; Mooijer PA; Watkins PA; Moser HW; Suzuki Y; Jiang LL; Hashimoto T; Hoefler G; Adamski J; Wanders RJ
Am J Hum Genet; 1999 Jan; 64(1):99-107. PubMed ID: 9915948
[TBL] [Abstract][Full Text] [Related]
17. Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.
Paton BC; Solly PB; Nelson PV; Pollard AN; Sharp PC; Fietz MJ
Prenat Diagn; 2002 Jan; 22(1):38-41. PubMed ID: 11810648
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
Pierce SB; Walsh T; Chisholm KM; Lee MK; Thornton AM; Fiumara A; Opitz JM; Levy-Lahad E; Klevit RE; King MC
Am J Hum Genet; 2010 Aug; 87(2):282-8. PubMed ID: 20673864
[TBL] [Abstract][Full Text] [Related]
19. First-ever genetic link for Perrault syndrome established.
Am J Med Genet A; 2010 Nov; 152A(11):fmix. PubMed ID: 20979184
[No Abstract] [Full Text] [Related]
20. Assignment of human 17 beta-hydroxysteroid dehydrogenase IV to chromosome 5q2 by fluorescence in situ hybridization.
Leenders F; Prescher G; Dolez V; Begue A; de Launoit Y; Adamski J
Genomics; 1996 Nov; 37(3):403-4. PubMed ID: 8938456
[No Abstract] [Full Text] [Related]
[Next] [New Search]