Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.

N Blau; C W Heizmann; Wolfgang Sperl; G C Korenke; G F Hoffmann; P M Smooker; R G Cotton

doi:10.1203/00006450-199212000-00021

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.

N Blau, C W Heizmann, Wolfgang Sperl (Co-author), G C Korenke, G F Hoffmann, P M Smooker, R G Cotton

Research output: Contribution to journal › Case report › peer-review

28 Citations (Web of Science)

Original language	English
Pages (from-to)	726-730
Journal	PEDIATRIC RESEARCH
Volume	32
Issue number	6
DOIs	https://doi.org/10.1203/00006450-199212000-00021
Publication status	Published - 1992

Keywords

FOLINIC ACID THERAPY
HYPERPHENYLALANINEMIA
TETRAHYDROBIOPTERIN
PHENYLKETONURIA
EXPERIENCE
DIAGNOSIS

Access to Document

10.1203/00006450-199212000-00021

Cite this

Blau, N., Heizmann, C. W., Sperl, W., Korenke, G. C., Hoffmann, G. F., Smooker, P. M., & Cotton, R. G. (1992). Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. PEDIATRIC RESEARCH , 32(6), 726-730. https://doi.org/10.1203/00006450-199212000-00021

Blau, N ; Heizmann, C W ; Sperl, Wolfgang et al. / Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. In: PEDIATRIC RESEARCH 1992 ; Vol. 32, No. 6. pp. 726-730.

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keywords = "FOLINIC ACID THERAPY, HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN, PHENYLKETONURIA, EXPERIENCE, DIAGNOSIS",

author = "N Blau and Heizmann, {C W} and Wolfgang Sperl and Korenke, {G C} and Hoffmann, {G F} and Smooker, {P M} and Cotton, {R G}",

year = "1992",

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language = "English",

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Blau, N, Heizmann, CW, Sperl, W, Korenke, GC, Hoffmann, GF, Smooker, PM & Cotton, RG 1992, 'Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.', PEDIATRIC RESEARCH , vol. 32, no. 6, pp. 726-730. https://doi.org/10.1203/00006450-199212000-00021

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. / Blau, N; Heizmann, C W; Sperl, Wolfgang (Co-author) et al.
In: PEDIATRIC RESEARCH , Vol. 32, No. 6, 1992, p. 726-730.

Research output: Contribution to journal › Case report › peer-review

TY - JOUR

T1 - Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.

AU - Blau, N

AU - Heizmann, C W

AU - Sperl, Wolfgang

AU - Korenke, G C

AU - Hoffmann, G F

AU - Smooker, P M

AU - Cotton, R G

PY - 1992

Y1 - 1992

KW - FOLINIC ACID THERAPY

KW - HYPERPHENYLALANINEMIA

KW - TETRAHYDROBIOPTERIN

KW - PHENYLKETONURIA

KW - EXPERIENCE

KW - DIAGNOSIS

U2 - 10.1203/00006450-199212000-00021

DO - 10.1203/00006450-199212000-00021

M3 - Case report

C2 - 1283784

SN - 0031-3998

VL - 32

SP - 726

EP - 730

JO - PEDIATRIC RESEARCH

JF - PEDIATRIC RESEARCH

IS - 6

ER -

Blau N, Heizmann CW, Sperl W, Korenke GC, Hoffmann GF, Smooker PM et al. Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. PEDIATRIC RESEARCH . 1992;32(6):726-730. doi: 10.1203/00006450-199212000-00021