Volume 9, Issue 2 supplement

Journal of Inherited Metabolic Disease is now archived and no longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.

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June 1986

46 articles in this issue

Introduction and explanation
J. T. Ireland
Clinical Symposium — Phenylketonuria SSIEM 23RD Annual Symposium, Liverpool 1985 Pages: 157 - 158
Maternal phenylketonuria
R. Koch
E. Gross Friedman
G. Donnell
Clinical Symposium — Phenylketonuria SSIEM 23RD Annual Symposium, Liverpool 1985 Pages: 159 - 168
Dietary problems of phenylketonuria: Effect on CNS transmitters and their possible role in behaviour and neuropsychological function
F. Güttler
H. Lou
Clinical Symposium — Phenylketonuria SSIEM 23RD Annual Symposium, Liverpool 1985 Pages: 169 - 177
Diagnosis in relationship to treatment of hyperphenylalaninaemia
M. E. Blaskovics
Clinical Symposium — Phenylketonuria SSIEM 23RD Annual Symposium, Liverpool 1985 Pages: 178 - 182
Problems related to diet management of maternal phenylketonuria
P. B. Acosta
S. Stepnick-Gropper
Clinical Symposium — Phenylketonuria SSIEM 23RD Annual Symposium, Liverpool 1985 Pages: 183 - 201
Preface to short communications
R. A. Harkness
R. J. Pollitt
G. M. Addison
Short Communications Pages: 203 - 203
Free communications

Short Communications Pages: 204 - 205
Molecular biology of phenylalanine hydroxylase
R. G. F. Cotton
H. H. M. Dahl
F. J. Morgan
Short Communication Pages: 206 - 208
Hepatic phenylalanine hydroxylase and dietary tolerance in hyperphenylalaninaemic patients
C. Largilliere
J. L. Dhondt
J. P. Farriaux
Short Communication Pages: 209 - 211
Phenylalanine meta10545tes in treated phenylketonuric children
K. Michals
M. Lopus
R. Matalon
Short Communication Pages: 212 - 214
Magnesium-deficient rickets in a phenylketonuric patient on dietary treatment
A. Rottoli
E. Riva
M. Giovannini
Short Communication Pages: 215 - 217
Termination of strict diet in phenylketonuria: Neurophysiological, psychological and biochemical studies
A. W. Behbehani
M. Vollrath
U. Langenbeck
Short Communication Pages: 218 - 222
Effects of stopping phenylalanine-restricted diet on intellectual progress of children with phenylketonuria
R. Cerone
S. Scalisi
C. Romano
Short Communication Pages: 223 - 224
Maternal hyperphenylalaninaemia: Dietary treatment during pregnancy
C. Romano
R. Cerone
S. Gatti
Short Communication Pages: 225 - 226
Maternal hyperphenylalaninaemia in Israel
B. E. Cohen
A. Szeinberg
S. Mashiach
Short Communication Pages: 227 - 230
Maternal phenylketonuria with increased tyrosine supplements
O. Sheil
N. Duignan
E. R. Naughten
Short Communication Pages: 231 - 233
Screening for phenylketonuria in Yugoslavia (SR Croatia) 1979–1984
D. Mardešić
G. Gjurić
A. Stavljenić
Short Communication Pages: 234 - 236
Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn population
I. Özalp
T. Coşkun
Y. Tarikahya
Short Communication Pages: 237 - 239
Atypical phenylketonuria with mild mental retardation caused by tetrahydrobiopterin deficiency in a Chinese family
K. -J. Hsiao
P. .C Chiu
S. -L. Chao
Short Communication Pages: 240 - 243
Dihydropteridine reductase deficiency: Clinical, biochemical and therapeutic aspects
R. Cerone
S. Scalisi
C. Romano
Short Communication Pages: 244 - 246
Partial dihydropteridine reductase deficiency and mental retardation
A. Sahota
R. J. Leeming
B. E. Cohen
Short Communication Pages: 247 - 249
Urine amino acid analysis by HPLC in the investigation of inborn errors of meta10545sm
J. M. Leah
T. Palmer
V. G. Oberholzer
Short Communication Pages: 250 - 253
Plasma amino acid patterns in critically ill children
A. Briddon
V. G. Oberholzer
Short Communication Pages: 254 - 256
Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitution
B. Lindblad
J. Fridén
C. Siösteen
Short Communication Pages: 257 - 261
Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia
A. Fois
P. Borgogni
M. L. Battini
Short Communication Pages: 262 - 264
A new case of hyperlysinaemia with saccharopinuria
C. Vianey-Liaud
M. O. Rolland
J. Cotte
Short Communication Pages: 265 - 267
Failure of early diazepam treatment in a neonate with non-ketotic hyperglycinaemia
A. Aukett
R. A. Braithwaite
A. Green
Short Communication Pages: 268 - 271
Gyrate atrophy of the choroid and retina: 3 cases in one Italian family
A. Fois
P. Borgogni
W. J. Kleijer
Short Communication Pages: 272 - 274
Methylenetetrahydrofolate reductase and methyltetrahydrofolate methyltransferase in human fetal tissues and chorionic villi
Y. S. Shin
G. Pilz
W. Endres
Short Communication Pages: 275 - 276
Kinetic studies on the glucose-6-phosphate transport system in rat hepatic microsomal membrane
Y. Igarashi
S. Kato
K. Tada
Short Communication Pages: 277 - 279
Long-term cornstarch therapy in glycogen storage disease types I, Ib and III
R. Gatti
G. Lamedica
C. Borrone
Short Communication Pages: 280 - 283
Galactose-1-phosphate-uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia
M. O. Rolland
G. Mandon
C. Dorche
Short Communication Pages: 284 - 286
Molecular heterogeneity of McArdle disease
D. Daegelen
S. Gautron
A. Kahn
Short Communication Pages: 287 - 290
Decreased affinity of phosphorylasea for glucose-1-phosphate in polymorphonuclear leukocytes of a patient with glycogenosis type VI
D. Pieniazek
E. Pronicka
Short Communication Pages: 291 - 292
The diagnosis and treatment of a patient with medium-chain acyl-CoA dehydrogenase deficiency: Overnight fasting does not result in the expected urinary meta10545te profile
A. H. van Gennip
H. D. Bakker
L. J. van Oudheusden
Short Communication Pages: 293 - 296
A new case of C₆–C₁₄ dicarboxylic aciduria with favourable evolution
E. Riudor
A. Ribes
A. Ballabriga
Short Communication Pages: 297 - 299
Pyruvate carboxylase responsive to ketosis in a multiple carboxylase deficiency patient
A. Velázquez
D. von Raesfeld
V. del Castillo
Short Communication Pages: 300 - 302
Neonatal screening for biotinidase deficiency: An update
B. Wolf
G. S. Heard
A. S. Linyear
Short Communication Pages: 303 - 306
GM₂ gangliosidosis with hexosaminidase A and B defect: Report of a family with motor neuron disease-like phenotype
A. Federico
G. Ciacci
G. C. Guazzi
Short Communication Pages: 307 - 310
A comparison between hepatocytes and macrophages of sphingomyelin, cholesterol and acid lipase in various types of Niemann-Pick disease
A. Lageron
Short Communication Pages: 311 - 313
Juvenile dystonia without vertical gaze paralysis: Niemann-Pick type C disease
A. Federico
S. Palmeri
G. C. Guazzi
Short Communication Pages: 314 - 316
Pre- and postnatal diagnosis of the cerebrohepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence of absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts
R. J. A. Wanders
G. Schrakamp
R. B. H. Schutgens
Short Communication — Noel Raine Award Pages: 317 - 320
Impaired cholesterol side chain cleavage activity in liver from patients with the cerebro-hepato-renal (Zellweger) syndrome in relation to the accumulation of Di- and trihydroxycoprostanoic acid in serum
R. J. A. Wanders
H. S. A. Heymans
H. J. Eyssen
Short Communication Pages: 321 - 324
Deficiency of dihydroxyacetonephosphate acyltransferase and catalase-containing particles in patients with infantile refsum's disease
R. J. A. Wanders
R. B. H. Schutgens
J. M. Saudubray
Short Communication Pages: 325 - 328
Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata
H. S. A. Heymans
J. W. E. Oorthuys
R. B. H. Schutgens
Short Communication Pages: 329 - 331
Cytogenetic studies of three families with ataxia-telangiectasia (Louis-Bar syndrome)
L. Chessa
A. Federico
E. Gandini
Short Communication Pages: 332 - 335

Volume 9, Issue 2 supplement

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