85 related articles for article (PubMed ID: 15248099)
1. Clinical presentations of patients with polyol abnormalities.
Huck JH; Verhoeven NM; van Hagen JM; Jakobs C; van der Knaap MS
Neuropediatrics; 2004 Jun; 35(3):167-73. PubMed ID: 15248099
[TBL] [Abstract][Full Text] [Related]
2. Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life.
Koy A; Waldhaus A; Hammen HW; Wendel U; Mayatepek E; Schadewaldt P
Neonatology; 2009; 95(3):256-61. PubMed ID: 18987485
[TBL] [Abstract][Full Text] [Related]
3. Nephrological abnormalities in patients with transaldolase deficiency.
Loeffen YG; Biebuyck N; Wamelink MM; Jakobs C; Mulder MF; Tylki-Szymańska A; Fung CW; Valayannopoulos V; Bökenkamp A
Nephrol Dial Transplant; 2012 Aug; 27(8):3224-7. PubMed ID: 22510381
[TBL] [Abstract][Full Text] [Related]
4. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
Huck JH; Verhoeven NM; Struys EA; Salomons GS; Jakobs C; van der Knaap MS
Am J Hum Genet; 2004 Apr; 74(4):745-51. PubMed ID: 14988808
[TBL] [Abstract][Full Text] [Related]
5. Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.
Huck JH; Struys EA; Verhoeven NM; Jakobs C; van der Knaap MS
Clin Chem; 2003 Aug; 49(8):1375-80. PubMed ID: 12881455
[TBL] [Abstract][Full Text] [Related]
6. Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Valayannopoulos V; Verhoeven NM; Mention K; Salomons GS; Sommelet D; Gonzales M; Touati G; de Lonlay P; Jakobs C; Saudubray JM
J Pediatr; 2006 Nov; 149(5):713-7. PubMed ID: 17095351
[TBL] [Abstract][Full Text] [Related]
7. [The onset of psychiatric disorders and Wilson's disease].
Benhamla T; Tirouche YD; Abaoub-Germain A; Theodore F
Encephale; 2007 Dec; 33(6):924-32. PubMed ID: 18789784
[TBL] [Abstract][Full Text] [Related]
8. Relationship of white matter hyperintensities to cerebrospinal fluid glucose polyol pathway metabolites-a pilot study in treatment-resistant affective disorder patients.
Regenold WT; Hisley KC; Obuchowski A; Lefkowitz DM; Marano C; Hauser P
J Affect Disord; 2005 Apr; 85(3):341-50. PubMed ID: 15780705
[TBL] [Abstract][Full Text] [Related]
9. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
Bams-Mengerink AM; Majoie CB; Duran M; Wanders RJ; Van Hove J; Scheurer CD; Barth PG; Poll-The BT
Neurology; 2006 Mar; 66(6):798-803; discussion 789. PubMed ID: 16567694
[TBL] [Abstract][Full Text] [Related]
10. Sydenham's chorea in western Pennsylvania.
Zomorrodi A; Wald ER
Pediatrics; 2006 Apr; 117(4):e675-9. PubMed ID: 16533893
[TBL] [Abstract][Full Text] [Related]
11. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.
Fattal-Valevski A; Kesler A; Sela BA; Nitzan-Kaluski D; Rotstein M; Mesterman R; Toledano-Alhadef H; Stolovitch C; Hoffmann C; Globus O; Eshel G
Pediatrics; 2005 Feb; 115(2):e233-8. PubMed ID: 15687431
[TBL] [Abstract][Full Text] [Related]
12. Influence of D-arabitol and ribitol on neuronal network activity.
Klusmann A; Fleischer W; Waldhaus A; Siebler M; Mayatepek E
J Inherit Metab Dis; 2005; 28(6):1181-3. PubMed ID: 16435225
[TBL] [Abstract][Full Text] [Related]
13. Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing.
Qian Y; Banerjee S; Grossman CE; Amidon W; Nagy G; Barcza M; Niland B; Karp DR; Middleton FA; Banki K; Perl A
Biochem J; 2008 Oct; 415(1):123-34. PubMed ID: 18498245
[TBL] [Abstract][Full Text] [Related]
14. [A newly discovered metabolic diseases due to defects in the pentose pathway].
Tylki-Szymańska A; Stradomska TJ
Postepy Biochem; 2011; 57(2):168-71. PubMed ID: 21913417
[TBL] [Abstract][Full Text] [Related]
15. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.
Ruggieri M; Iannetti P; Polizzi A; La Mantia I; Spalice A; Giliberto O; Platania N; Gabriele AL; Albanese V; Pavone L
Neuropediatrics; 2005 Feb; 36(1):21-34. PubMed ID: 15776319
[TBL] [Abstract][Full Text] [Related]
16. Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies.
Bianchi MC; Sgandurra G; Tosetti M; Battini R; Cioni G
Biosci Rep; 2007 Jun; 27(1-3):69-85. PubMed ID: 17510789
[TBL] [Abstract][Full Text] [Related]
17. Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
García-Cazorla A; Rabier D; Touati G; Chadefaux-Vekemans B; Marsac C; de Lonlay P; Saudubray JM
Ann Neurol; 2006 Jan; 59(1):121-7. PubMed ID: 16278852
[TBL] [Abstract][Full Text] [Related]
18. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
Al-Hassnan ZN; Rashed MS; Al-Dirbashi OY; Patay Z; Rahbeeni Z; Abu-Amero KK
J Neurol Sci; 2008 Jan; 264(1-2):187-94. PubMed ID: 17825324
[TBL] [Abstract][Full Text] [Related]
19. L-Arabinosuria: a new defect in human pentose metabolism.
Onkenhout W; Groener JE; Verhoeven NM; Yin C; Laan LA
Mol Genet Metab; 2002; 77(1-2):80-5. PubMed ID: 12359133
[TBL] [Abstract][Full Text] [Related]
20. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Quijano-Roy S; Martí-Carrera I; Makri S; Mayer M; Maugenre S; Richard P; Berard C; Viollet L; Leheup B; Guicheney P; Pinard JM; Estournet B; Carlier RY
Brain Dev; 2006 May; 28(4):232-42. PubMed ID: 16368217
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
