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European Journal of Pediatrics, Supplement

Volumn 159, Issue 2, 2000, Pages

PAH gene mutation analysis in clinical practice - Comments on mutation analysis anticipates dietary requirements in phenylketonuria

(2) Zschocke, J a Hoffmann, G F a

a UNIVERSITY HOSPITAL HEIDELBERG (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

CLINICAL PRACTICE; CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERPHENYLALANINEMIA; NEWBORN SCREENING; NUTRITIONAL REQUIREMENT; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0033835894 PISSN: 09439676 EISSN: None Source Type: Journal
DOI: 10.1007/pl00014382 Document Type: Conference Paper

Times cited : (7)

References (7)

1
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- Burgard, P.¹ Bremer, H.J.² Buhrdel, P.³ Clemens, P.C.⁴ Monch, E.⁵ Przyrembel, H.⁶ Trefz, F.K.⁷ Ullrich, K.⁸

2
- 0028217614
- 'Broad-range' DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene
- (1994) Nucleic Acids Res , vol.22 , pp. 880-881
- Guldberg, P.¹ Guttler, F.²

3
- 0032231461
- A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
- (1998) Am J Hum Genet , vol.63 , pp. 71-79
- Guldberg, P.¹ Rey, F.² Zschocke, J.³ Romano, V.⁴ Francois, B.⁵ Michiels, L.⁶ Ullrich, K.⁷ Hoffmann, G.F.⁸ Burgard, P.⁹ Schmidt, H.¹⁰ Meli, C.¹¹ Riva, E.¹² Dianzani, I.¹³ Ponzone, A.¹⁴ Rey, J.¹⁵ Guttler, F.¹⁶

4
- 0027270101
- Comparison of genotype and intellectual phenotype in untreated PKU patients
- (1993) J Med Genet , vol.30 , pp. 401-505
- Ramus, S.J.¹ Forrest, S.M.² Pitt, D.B.³ Saleeba, J.A.⁴ Cotton, R.G.H.⁵

5
- 17144465052
- Delayed onset of phenylketonuria
- (1998) Eur J Pediatr , vol.157 , pp. 171
- Weglage, J.¹ Teefelen-Heithoff, A.² Zschocke, J.³ Zass, R.⁴ Marquardt, T.⁵ Koch, H.G.⁶

6
- 0027989338
- Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis
- (1994) Hum Mutat , vol.4 , pp. 114-118
- Zschocke, J.¹ Graham, C.A.² Stewart, F.J.³ Carson, D.J.⁴ Nevin, N.C.⁵

7
- 0032802203
- Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis
- (1999) J Inherit Metab Dis , vol.22 , pp. 687-692
- Zschocke, J.¹ Quak, E.² Knauer, A.³ Fritz, B.⁴ Aslan, M.⁵ Hoffman, G.F.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.