Volume 13, 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

July 1990

27 articles in this issue

Preface
W. Endres
EditorialNotes Pages: 393 - 394
Mechanisms of blood glucose homeostasis
H. -G. Hers
OriginalPaper Pages: 395 - 410
The long-term outcome of patients with glycogen storage diseases
G. P. A. Smit
J. Fernandes
K. Ullrich
OriginalPaper Pages: 411 - 418
Diagnosis of glycogen storage disease
Y. S. Shin
OriginalPaper Pages: 419 - 434
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure
M. W. Kilimann
OriginalPaper Pages: 435 - 441
Phosphorylase b kinase deficiency in man: a review
I. E. T. van den Berg
R. Berger
OriginalPaper Pages: 442 - 451
Announcement

Announcement Pages: 451 - 451
Muscle glycogenosis
S. W. Moses
OriginalPaper Pages: 452 - 465
Inherited disorders of carbohydrate metabolism in children studied by¹³C-labelled precursors, NMR and GC-MS
A. Lapidot
OriginalPaper Pages: 466 - 475
Galactose disorders: An overview
J. B. Holton
OriginalPaper Pages: 476 - 486
Regulation of galactose metabolism: Implications for therapy
S. Segal
S. Rogers
OriginalPaper Pages: 487 - 500
The mechanisms of cataract formation
C. Schmitt
O. Hockwin
OriginalPaper Pages: 501 - 508
Cataract and metabolic disease
W. Endres
Y. S. Shin
OriginalPaper Pages: 509 - 516
Plasma polyol levels in patients with cataract
C. Jakobs
A. C. Douwes
Y. S. Shin
OriginalPaper Pages: 517 - 522
Disorders of glycoprotein degradation
M. Cantz
B. Ulrich-Bott
OriginalPaper Pages: 523 - 537
α- andβ-mannosidoses
A. Cooper
C. E. Hatton
I. B. Sardharwalla
OriginalPaper Pages: 538 - 548
Schindler disease: An inherited neuroaxonal dystrophy due to α-N-acetylgalactosaminidase deficiency
R. J. Desnick
A. M. Wang
OriginalPaper Pages: 549 - 559
Advances in the molecular genetics of metachromatic leukodystrophy
V. Gieselmann
K. von Figura
OriginalPaper Pages: 560 - 571
Displacement bone marrow transplantation for some inborn errors
J. R. Hobbs
OriginalPaper Pages: 572 - 596
Clinical application of somatic gene therapy in inborn errors of metabolism
F. D. Ledley
OriginalPaper Pages: 597 - 616
Transport of amino acids by the human placenta: Predicted effects thereon of maternal hyperphenylalaninaemia
Y. Kudo
C. A. R. Boyd
Maternal PKU Workshop Pages: 617 - 626
Transport of amino acids across the blood-brain barrier: Implications for treatment of maternal phenylketonuria
R. M. Gardiner
Maternal PKU Workshop Pages: 627 - 633
The effects of high phenylalanine concentration on chick embryonic development
M. L. Kirby
S. T. Miyagawa
Maternal PKU Workshop Pages: 634 - 640
A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada
R. Koch
W. Hanley
E. Gross Friedman
Maternal PKU Workshop Pages: 641 - 650
Fetal damage due to maternal phenylketonuria: Effects of dietary treatment and maternal phenylalanine concentrations around the time of conception
I. Smith
J. Glossop
M. Beasley
Maternal PKU Workshop Pages: 651 - 657
Maternal phenylketonuria — the irish experience
E. Naughten
I. P. Saul
Maternal PKU Workshop Pages: 658 - 664
Cognitive development in offspring of untreated and preconceptionally treated maternal phenylketonuria
F. Güttler
H. Lou
J. B. Nielsen
Maternal PKU Workshop Pages: 665 - 671

Volume 13, Issue 4

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