SCOPUS 정보 검색 플랫폼

Volumn 93, Issue 2, 2008, Pages 216-218

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

(9) Ruiz, Angeles a García Villoria, Judit b Ormazabal, Aida c Zschocke, Johannes d Fiol, Miquel a Navarro Sastre, Aleix b Artuch, Rafael c Vilaseca, Ma Antonia c Ribes, Antonia b

a HOSPITAL UNIVERSITARIO SON ESPASES (Spain)

b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER (Spain)

c HOSPITAL SANT JOAN DE DÉU (Spain)

d UNIVERSITY OF HEIDELBERG (Germany)

Author keywords

Burst suppression; Hyperglycinemia; Neonatal convulsions; PLP; PNPO; Pyridox(am)ine 5 phosphate oxidase; Pyridoxal 5 phosphate; Vanillactate

Indexed keywords

LACTIC ACID DERIVATIVE; NEUROTRANSMITTER; PYRIDOXAMINE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG; VANILLACTATE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONVULSION; DISEASE SEVERITY; ENZYME DEFICIENCY; FATALITY; HOMOZYGOSITY; HUMAN; HYPERGLYCEMIA; INFANT; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PYRIDOXINE 5' PHOSPHATE OXIDASE DEFICIENCY; URINALYSIS;

BRAIN DISEASES, METABOLIC, INBORN; CODON, NONSENSE; EPILEPSY; FATAL OUTCOME; GENES, RECESSIVE; HOMOVANILLIC ACID; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PYRIDOXAL PHOSPHATE; PYRIDOXAMINEPHOSPHATE OXIDASE;

EID: 38049063824 PISSN: 10967192 EISSN: 10967206 Source Type: Journal
DOI: 10.1016/j.ymgme.2007.10.003 Document Type: Article

Times cited : (51)

References (8)

1
- 33846236550
- Exploring the pyridoxal 5′-phosphate-dependent enzymes
- Mozzarelli A., and Bettati S. Exploring the pyridoxal 5′-phosphate-dependent enzymes. Chem. Rec. 6 (2006) 275-287
- (2006) Chem. Rec. , vol.6 , pp. 275-287
- Mozzarelli, A.¹ Bettati, S.²

2
- 0036191050
- Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine
- Kuo M.F., and Wang H.S. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr. Neurol. 26 (2002) 146-147
- (2002) Pediatr. Neurol. , vol.26 , pp. 146-147
- Kuo, M.F.¹ Wang, H.S.²

3
- 0038244051
- Neonatal epileptic encephalopathy
- Clayton P.T., Surtees R.A.H., DeVile C., Hyland K., and Heales S.J.R. Neonatal epileptic encephalopathy. Lancet 361 (2003) 1614
- (2003) Lancet , vol.361 , pp. 1614
- Clayton, P.T.¹ Surtees, R.A.H.² DeVile, C.³ Hyland, K.⁴ Heales, S.J.R.⁵

4
- 20244367772
- Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
- Mills P.B., Surtees R.A.H., Champion M.P., Beesley C.E., Dalton N., Scambler P.J., Heales S.J.R., Briddon A., Scheimberg I., Hoffmann G.F., Zschocke J., and Clayton P.T. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum. Mol. Genet. 14 (2005) 1077-1086
- (2005) Hum. Mol. Genet. , vol.14 , pp. 1077-1086
- Mills, P.B.¹ Surtees, R.A.H.² Champion, M.P.³ Beesley, C.E.⁴ Dalton, N.⁵ Scambler, P.J.⁶ Heales, S.J.R.⁷ Briddon, A.⁸ Scheimberg, I.⁹ Hoffmann, G.F.¹⁰ Zschocke, J.¹¹ Clayton, P.T.¹²

5
- 33846454698
- Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy
- Hoffmann G.F., Schmitt B., Windfuhr M., Wagner N., Strehl H., Bagci S., Franz A.R., Mills P.B., Clayton P.T., Baumgartner M.R., Steinmann B., Bast T., Wolf N.I., and Zschocke J. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J. Inherit. Metab. Dis. 30 (2007) 96-99
- (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 96-99
- Hoffmann, G.F.¹ Schmitt, B.² Windfuhr, M.³ Wagner, N.⁴ Strehl, H.⁵ Bagci, S.⁶ Franz, A.R.⁷ Mills, P.B.⁸ Clayton, P.T.⁹ Baumgartner, M.R.¹⁰ Steinmann, B.¹¹ Bast, T.¹² Wolf, N.I.¹³ Zschocke, J.¹⁴

6
- 0026704874
- Significance of bound glutarate in the diagnosis of glutaric aciduria type I
- Ribes A., Riudor E., Briones P., Christensen E., Campistol J., and Millington D.S. Significance of bound glutarate in the diagnosis of glutaric aciduria type I. J. Inherit. Metab. Dis. 15 (1992) 367-370
- (1992) J. Inherit. Metab. Dis. , vol.15 , pp. 367-370
- Ribes, A.¹ Riudor, E.² Briones, P.³ Christensen, E.⁴ Campistol, J.⁵ Millington, D.S.⁶

7
- 12344270964
- HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins
- Ormazabal A., García-Cazorla A., Fernández Y., Fernández-Álvarez E., Campistol J., and Artuch R. HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J. Neurosci. Methods 142 (2005) 153-158
- (2005) J. Neurosci. Methods , vol.142 , pp. 153-158
- Ormazabal, A.¹ García-Cazorla, A.² Fernández, Y.³ Fernández-Álvarez, E.⁴ Campistol, J.⁵ Artuch, R.⁶

8
- 0032965761
- A simple sensitive and reproducible assay for pyridoxal 5′-phosphate and 4-pyridoxyc acid in human plasma
- Bates C.J., Pentieva K.D., Matthews N., and Macdonald A. A simple sensitive and reproducible assay for pyridoxal 5′-phosphate and 4-pyridoxyc acid in human plasma. Clin. Chim. Acta. 280 (1999) 101-111
- (1999) Clin. Chim. Acta. , vol.280 , pp. 101-111
- Bates, C.J.¹ Pentieva, K.D.² Matthews, N.³ Macdonald, A.⁴

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