Volume 8, Issue 3

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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September 1985

25 articles in this issue

A method for enrichment of hybrid somatic cells: Complementation studies in certain lysosomal enzymopathies
P. V. Nelson
W. F. Carey
OriginalPaper Pages: 95 - 99
Succinic semialdehyde dehydrogenase deficiency—A further case
E. A. Haan
G. K. Brown
D. M. Danks
Case Report Pages: 99 - 99
The role of lipid in the mangaement of methylmalonic acidaemia: Administration of linoleic acid does not increase excretion of methylmalonic acid
J. A. Wolff
L. Sweetman
W. L. Nyhan
Case Report Pages: 100 - 100
Amniotic tissue transplantation as a trial of treatment in some lysosomal storage diseases
A. Tylki-Szymańska
D. Maciejko
B. Czartoryska
OriginalPaper Pages: 101 - 104
Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine
T. Takahashi
S. Kodama
Y. Sawada
OriginalPaper Pages: 105 - 108
Cranial computerized tomography in dihydropteridine reductase deficiency
R. Longhi
R. Valsasina
M. Giovannini
OriginalPaper Pages: 109 - 112
Outcome of pregnancy in the rat with mild hyperphenylalaninaemia and hypertyrosinaemia: Implications for the management of “human maternal PKU”
S. A. Lewis
I. C. T. Lyon
R. B. Elliott
OriginalPaper Pages: 113 - 117
Book review
J. W. T. Seakins
BookReview Pages: 117 - 117
Book review
G. T. N. Besley
BookReview Pages: 118 - 118
Comparative column chromatographic estimations of phenylalanine in plasma, whole blood, native and paper-dried capillary blood of healthy children and adults, and patients with hyperphenylalaninaemia
K. Becker
J. Harenz
A. W. Behbehani
OriginalPaper Pages: 119 - 122
5-Hydroxy-L-lysine excretion in cystinuria
R. A. Roesel
P. R. Blankenship
F. H. Leibach
OriginalPaper Pages: 123 - 126
Biochemical phenotyping of a single sibship with both cystinosis and fabry disease
W. A. Gahl
M. Adamson
J. Barranger
OriginalPaper Pages: 127 - 131
An evaluation of protein requirements in methylmalonic acidaemia
D. Ney
C. Bay
W. L. Nyhan
OriginalPaper Pages: 132 - 142
Establishment of human fibroblast cell lines with lysosomal enzyme deficiency by transformation with origin-minus SV40 DNA
T. Furuya
T. Momoi
N. Yamaguchi
JSIMD Meeting Pages: 143 - 144
Quantitation and biosynthesis of β-glucuronidase cross-reactive material in fibroblasts from patients with mucopolysaccharidosis VII
K. Sukegawa
T. Orii
JSIMD Meeting Pages: 145 - 146
Lack of acid sphingomyelinase in the mitochondria-lysosome fraction of brain from Niemann-Pick mice
M. Tsuda
M. Owada
S. Miyawaki
JSIMD Meeting Pages: 147 - 148
Hexosaminidase a activity in skin fibroblasts from various types of GM₂ gangliosidosis using a fluorogenic sulphated substrate
K. Inui
T. Yutaka
R. J. Desnick
JSIMD Meeting Pages: 149 - 150
Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia
H. Kakinuma
N. Ogura
Y. Nomoto
JSIMD Meeting Pages: 151 - 152
Kinetic properties of the glucose-6-phosphate transport system in rat hepatic microsomal membranes
Y. Igarashi
S. Kato
K. Tada
JSIMD Meeting Pages: 153 - 154
Book review
M. C. Brown
BookReview Pages: 154 - 154
Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan
T. Saheki
K. Nakano
S. Matuo
JSIMD Meeting Pages: 155 - 156
Structure of the 5′ end region of the human argininosuccinate synthetase gene
Y. Jinno
H. Nomiyama
T. Saheki
JSIMD Meeting Pages: 157 - 159
Systemic carnitine deficiency as the cause of a prolonged illness and sudden death in a six-year-old child
M. Legge
Case Report Pages: 159 - 159
Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia
S. Scaglioni
G. Zuccotti
M. Giovannini
Case Report Pages: 160 - 160
Normal circulating acid phosphatase activity in hypophosphatasia
S. D. Rettinger
M. P. Whyte
Short Report Pages: 161 - 162

Volume 8, Issue 3

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