Volume 15, Issue 1

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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January 1992

26 articles in this issue

Editorial
R. A. Harkness
EditorialNotes Pages: 3 - 3
Erythrocytic uridine diphosphate galactose in galactosaemia
H. N. Kirkman Jr
OriginalPaper Pages: 4 - 16
Book review
F. Cockburn
BookReview Pages: 16 - 16
Animal models for lysosomal storage diseases: A new case of feline mucopolysaccharidosis VI
P. Di Natale
T. Annella
A. E. Gravino
OriginalPaper Pages: 17 - 24
Attempted enzyme replacement using human amnion membane implantations in mucopolysaccharidoses
J. Muenzer
E. F. Neufeld
M. A. Zasloff
OriginalPaper Pages: 25 - 37
Book review
R. A. Harkness
BookReview Pages: 37 - 37
3β-hydroxy-Δ⁵-C₂₇-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology
S. P. Horslen
A. M. Lawson
P. T. Clayton
OriginalPaper Pages: 38 - 46
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease
E. Paschke
W. Gruber
W. Sperl
OriginalPaper Pages: 47 - 56
Oligosaccharides accumulated in the bovineβ-mannosidosis kidney
M. Z. Jones
E. J. S. Rathke
F. Matsuura
OriginalPaper Pages: 57 - 67
Book review
J. W. T. Seakins
BookReview Pages: 67 - 67
Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible
G. E. Graham
P. M. MacLeod
P. J. Bridge
OriginalPaper Pages: 68 - 74
Zellweger syndrome in a preterm, small for gestational age infant
J. F. Samsom
C. Jakobs
R. J. A. Wanders
OriginalPaper Pages: 75 - 83
Announcement

Announcement Pages: 83 - 83
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose
R. J. A. Wanders
F. A. Wijburg
N. Feller
OriginalPaper Pages: 84 - 91
Effect of methylmalonate onin vitro lactate release and carbon dioxide production by brain of suckling rats
M. Wajner
J. C. Dutra
E. R. Motta
OriginalPaper Pages: 92 - 96
Quantification ofN-acetyl-l-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry
R. I. Kelley
J. N. Stamas
OriginalPaper Pages: 97 - 104
Carrier detection for Sjögren-Larsson syndrome
T. L. Kelson
D. A. Craft
W. B. Rizzo
OriginalPaper Pages: 105 - 111
Comparison of total cellular DNA, mRNA, and rRNA levels between normals and down syndrome patients
C. I. McQuillan
K. H. Choo
OriginalPaper Pages: 112 - 120
Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination
E. Treacy
C. L. Clow
C. R. Scriver
OriginalPaper Pages: 121 - 135
A synopsis of the unconjugated acidic transamination metabolites of phenylalanine in phenylketonuria
U. Langenbeck
A. Behbehani
A. Mench-Hoinowski
OriginalPaper Pages: 136 - 144
Books received

Announcement Pages: 144 - 144
Leucine and tissue distribution of bulky and small neutral amino acids in rats: Dissociation between transport and insulin-mediated effects
C. de Céspedes
J. G. Thoene
H. N. Christensen
OriginalPaper Pages: 145 - 154
Alloisoleucine in isovaleric acidaemia
D. Rabier
P. Parvy
P. Kamoun
Short Report Pages: 154 - 155
Removal of lipoprotein fraction from culture media corrects the reduction of acid sphingomyelinase activity induced by AY9944
H. Yoshikawa
N. Sakuragawa
Short Report Pages: 155 - 156
Renal tubular function of patients with classical menkes disease
H. Kodama
I. Okabe
M. Okaniwa
Short Report Pages: 157 - 158
Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia
W. Sperl
R. Geiger
M. Sailer
Short Report Pages: 158 - 159

Volume 15, Issue 1

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