Works matching IS 08035253 AND DT 1992 AND VI 83 AND IP s407

Results: 33

Phenylalanine levels of 6-10mg/dl may not be as benign as once thought.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 89, doi. 10.1111/j.1651-2227.1994.tb13462.x

By:

Diamond, A

Publication type:

Article

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 49, doi. 10.1111/j.1651-2227.1994.tb13451.x

By:

Güttler, F;
Guldberg, P

Publication type:

Article

Science, medicine and phenylketonuria.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 11, doi. 10.1111/j.1651-2227.1994.tb13441.x

By:

Scriver, CR

Publication type:

Article

Feeding problems in young PKU children.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 73, doi. 10.1111/j.1651-2227.1994.tb13457.x

By:

MacDonald, A;
Rylance, GW;
Asplin, DA;
Hall, K;
Harris, G;
Booth, IW

Publication type:

Article

Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 37, doi. 10.1111/j.1651-2227.1994.tb13445.x

By:

Zschocke, J;
Graham, CA;
Stewart, FJ;
Carson, DJ;
Nevin, NC

Publication type:

Article

Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 66, doi. 10.1111/j.1651-2227.1994.tb13454.x

By:

Acosta, PB;
Yannicelli, S

Publication type:

Article

Population genetics of phenylketonuria.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 19, doi. 10.1111/j.1651-2227.1994.tb13442.x

By:

Eisensmith, RC;
Woo, SLC

Publication type:

Article

Loss of neurotransmitter receptors by hyperphenylalaninemia in the HPH-5 mouse brain.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 120, doi. 10.1111/j.1651-2227.1994.tb13469.x

By:

Hommes, FA

Publication type:

Article

Gene therapy for phenylketonuria.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 124, doi. 10.1111/j.1651-2227.1994.tb13471.x

By:

Eisensmith, RC;
Woo, SLC

Publication type:

Article

Information processing deficits in children with early and continuously treated phenylketonuria?

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 106, doi. 10.1111/j.1651-2227.1994.tb13466.x

By:

Stemerdink, BA;
Molen, MW;
Kalverboer, AF;
Meere, JJ;
Hendrikx, MMT;
Huisman, J;
Schot, LWA;
Slijper, FME

Publication type:

Article

Molecular analysis of PKU in Ireland.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 43, doi. 10.1111/j.1651-2227.1994.tb13448.x

By:

O'Neill, CA;
Eisensmith, RC;
Croke, DT;
Naughten, ER;
Cahalane, SF;
Woo, SLC

Publication type:

Article

MRI characterization of cerebral dysgenesis in maternal PKU.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 83, doi. 10.1111/j.1651-2227.1994.tb13460.x

By:

Allen, RJ;
Brunberg, J;
Schwartz, E;
Schaefer, AM;
Jackson, G

Publication type:

Article

Preface.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 1, doi. 10.1111/j.1651-2227.1994.tb13439.x

By:

Güttler, F

Publication type:

Article

Mutation analysis of the phenylalanine hydroxylase gene using heteroduplex analysis with synthetic DNA constructs.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 47, doi. 10.1111/j.1651-2227.1994.tb13450.x

By:

Tyfield, LA;
Stephenson, A;
Bidwell, JL;
Wood, NAP;
Cockburn, F;
Harvie, A;
Smith, I

Publication type:

Article

Review of neuropsychological functioning in treated phenylketonuria: an information processing approach.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 98, doi. 10.1111/j.1651-2227.1994.tb13464.x

By:

Waisbren, SE;
Brown, MJ;
Sonneville, LMJ;
Levy, HL

Publication type:

Article

Treatment of phenylalanine hydroxylase deficiency.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 60, doi. 10.1111/j.1651-2227.1994.tb13453.x

By:

Smith, I

Publication type:

Article

A new amino acid mixture permits new approaches to the treatment of phenylketonuria.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 75, doi. 10.1111/j.1651-2227.1994.tb13458.x

By:

Buist, NRM;
Prince, AP;
Huntington, KL;
Tuerck, JM;
Waggoner, DD

Publication type:

Article

Indications of changed amino acid homeostasis in untreated and treated PKU.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 57, doi. 10.1111/j.1651-2227.1994.tb13452.x

By:

Hjelm, M;
Seakins, J;
Antoshechkin, A

Publication type:

Article

Dopamine precursors and brain function in phenylalanine hydroxylase deficiency.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 86, doi. 10.1111/j.1651-2227.1994.tb13461.x

By:

Lou, HC

Publication type:

Article

The phenylalanine response curve in relation to growth and mental development in the first years of life.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 68, doi. 10.1111/j.1651-2227.1994.tb13455.x

By:

Schot, LW;
Doesburg, WH;
Sengers, RCA

Publication type:

Article

Association between haplotypes, Hind III-VNTR alleles and mutations at the PAH locus in Sicily.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 39, doi. 10.1111/j.1651-2227.1994.tb13446.x

By:

Romano, V;
Call, F;
Guldberg, P;
Güttler, F;
Indelicato, A;
Bosco, P;
Ceratto, N

Publication type:

Article

The international collaborative study of maternal phenylketonuria: status report 1994.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 111, doi. 10.1111/j.1651-2227.1994.tb13468.x

By:

Koch, R;
Levy, HL;
Matalon, R;
Rouse, B;
Hanley, WB;
Trefz, F;
Azen, C;
Friedan, EG;
Cruz, F;
Güttler, F;
Acosta, PB

Publication type:

Article

The discovery of phenylketonuria.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 4, doi. 10.1111/j.1651-2227.1994.tb13440.x

By:

Følling, I

Publication type:

Article

The PKU mouse project: its history, potential and implications.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 122, doi. 10.1111/j.1651-2227.1994.tb13470.x

By:

McDonald, JD

Publication type:

Article

Social behaviour and task orientation in early-treated PKU.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 104, doi. 10.1111/j.1651-2227.1994.tb13465.x

By:

Kalverboer, AF;
Schot, LWA;
Hendrikx, MMH;
Huisman, J;
Slijper, FME;
Stemerdink, BA

Publication type:

Article

Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 108, doi. 10.1111/j.1651-2227.1994.tb13467.x

By:

Burgard, P;
Armbruster, M;
Schmidt, E;
Rupp, A

Publication type:

Article

Predictors of mean phenylalanine levels during the first five years of life in patients with phenylketonuria who were treated early.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 70, doi. 10.1111/j.1651-2227.1994.tb13456.x

By:

Verkerk, PH;
Spronsen, FJ;
Houten, M;
Smit, GPA;
Sengers, RCA

Publication type:

Article

The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 41, doi. 10.1111/j.1651-2227.1994.tb13447.x

By:

Zschocke, J;
Graham, CA;
McKnight, JJ;
Nevin, NC

Publication type:

Article

PKU in adolescents: rationale and psychosocial factors in diet continuation.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 92, doi. 10.1111/j.1651-2227.1994.tb13463.x

By:

Levy, HL;
Waisbren, SE

Publication type:

Article

Spectrum and origin of phenylketonuria mutations in Spain.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 34, doi. 10.1111/j.1651-2227.1994.tb13444.x

By:

Pérez, B;
Desviat, LR;
Lucca, M De;
Ugarte, M

Publication type:

Article

Ectopic transcription: an application to the analysis of splicing errors in phenylalanine hydroxylase mRNA.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 45, doi. 10.1111/j.1651-2227.1994.tb13449.x

By:

Takahashi, K;
Masamune, A;
Kure, S;
Matsubara, Y;
Narisawa, K

Publication type:

Article

Mutations in the phenylalanine hydroxylase gene: methods for their characterization.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 27, doi. 10.1111/j.1651-2227.1994.tb13443.x

By:

Guldberg, P;
Güttler, F

Publication type:

Article

White matter abnormalities in phenylketonuria: results of magnetic resonance measurements.

Published in:

Acta Paediatrica, 1992, v. 83, n. s407, p. 78, doi. 10.1111/j.1651-2227.1994.tb13459.x

By:

Ullrich, K;
Möller, H;
Weglage, J;
Schuierer, G;
Bick, U;
Ludolph, A;
Hahn-Ullrich, H;
Fünders, B;
Koch, H-G

Publication type:

Article