Volume 5, Issue 4

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.

Search all Journal of Inherited Metabolic Disease articles

December 1982

23 articles in this issue

Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization
E. R. B. McCabe
D. Sadava
C. I. Rose
OriginalPaper Pages: 177 - 182
Book review
J. Chapple
BookReview Pages: 182 - 182
Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation — a new HPRT variant
R. P. Gottlieb
M. M. Koppel
T. Page
OriginalPaper Pages: 183 - 186
Book review
R. A. Harkness
BookReview Pages: 186 - 186
Effects of econazole, fungizone and pimafucin on cell growth, lysosomal enzyme activity and sulphate metabolism of cultured human skin fibroblasts and amniotic fluid cells
J. Butterworth
OriginalPaper Pages: 187 - 191
Book review
N. I. Illsley
BookReview Pages: 191 - 191
Aspartylglycosaminuria: An inborn error of glycoprotein catabolism
C. P. J. Maury
Review Pages: 192 - 196
Book review
M. A. Mansell
BookReview Pages: 196 - 196
Metabolism of collagen in aspartylglycosaminuria: Decreased synthesis by cultured fibroblasts
K. Näntö-Salonen
R. Penttinen
OriginalPaper Pages: 197 - 203
Role of the liver in the pathogenesis of cerebral disorders in phenylketonuria
Y. I. Barashnev
V. V. Korneichuk
L. A. Klyushina
OriginalPaper Pages: 204 - 210
Aminoacidopathies in andhra pradesh; report of a screening programme
S. M. Uma
A. Jyothy
O. S. Reddi
OriginalPaper Pages: 211 - 214
Book review
A. J. Cummings
BookReview Pages: 214 - 214
Presymptomatic diagnosis: Metachromatic eukodystrophy or pseudo arylsulphatase a deficiency?
H. Kihara
A. L. Fluharty
W. Leider
OriginalPaper Pages: 215 - 217
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency
L. Cam
G. Tettamanti
J. J. Martin
OriginalPaper Pages: 218 - 224
Increased excretion of four acetyl-CoA precursors during clinical episode of propionic acidaemia
T. Kuhara
T. Shinka
M. Matsuo
JSIMD Meeting Pages: 225 - 226
Glycogen storage disease type 1b due to a defect of glucose-6-phosphate translocase
K. Narisawa
H. Otomo
T. Kuzuya
JSIMD Meeting Pages: 227 - 228
Hepatic tyrosine aminotransferase in tyrosinaemia type II
K. Kida
M. Takahashi
Y. Miki
JSIMD Meeting Pages: 229 - 230
Residual activity in fibroblasts from two brothers with the late-onset form ofN-acetylgalactosamine-6-sulphate sulphatase deficiency
K. Sukegawa
T. Orii
JSIMD Meeting Pages: 231 - 232
Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency
N. Sugiyama
Y. Wada
I. Nonaka
JSIMD Meeting Pages: 233 - 234
Neonatal multiple sulphatase deficiency disorder biochemical characterization
Y. Eto
T. Tokoro
E. Vamos
JSIMD Meeting Pages: 235 - 236
A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
F. Endo
A. Kitano
I. Matsumoto
JSIMD Meeting Pages: 237 - 238
A lysosomal storage disorder in mice: A model of Niemann-Pick disease
T. Sakiyama
M. Tsuda
S. Miyawaki
JSIMD Meeting Pages: 239 - 240
Normal pterin values in urine and serum in neonates and its age-related change throughout life
H. Shintaku
G. Isshiki
T. Oura
JSIMD Meeting Pages: 241 - 242

Volume 5, Issue 4

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