Volume 17, Issue 5

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 1994

30 articles in this issue

A novel mtDNA deletion in an infant with Pearson syndrome
R. Kapsa
G. N. Thompson
R. B. Blok
OriginalPaper Pages: 521 - 526
Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid α-oxidation
R. Fingerhut
W. Schmitz
E. Conzelmann
OriginalPaper Pages: 527 - 532
Book review
R. A. Harkness
BookReview Pages: 532 - 532
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay
P. T. Clayton
S. Eckhardt
R. B. H. Schutgens
OriginalPaper Pages: 533 - 540
NormalN-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome
R. Knauer
L. Lehle
K. von Figura
OriginalPaper Pages: 541 - 544
Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid
E. Goldin
Y. Imai
V. C. Hascall
OriginalPaper Pages: 545 - 553
Plasmacis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency
D. W. Johnson
J. R. Harrison
E. F. Robertson
OriginalPaper Pages: 554 - 559
Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy
T. Kishi
I. Kawamura
D. S. Rosenblatt
OriginalPaper Pages: 560 - 565
Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies
W. W. Grody
R. J. Chang
S. D. Cederbaum
OriginalPaper Pages: 566 - 574
Book review
G. T. N. Besley
BookReview Pages: 574 - 574
Brain magnetic resonance imaging in children with optimally controlled hyperphenylalaninaemia
P. B. Toft
H. C. Lou
O. Henriksen
OriginalPaper Pages: 575 - 583
Book review
Jean M. Kirk
BookReview Pages: 583 - 583
Personality disorder in young women with treated phenylketonuria
S. E. Waisbren
J. Zaff
OriginalPaper Pages: 584 - 592
Molecular genetics of Tay-Sachs disease in Japan
A. Tanaka
H. Sakazaki
K. Suzuki
JSSIEM Meeting Pages: 593 - 600
Molecular analysis by Southern blot for theN-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population
S. Tomatsu
S. Fukuda
T. Orii
JSSIEM Meeting Pages: 601 - 605
Influence of ageing on onset of mitochondrial disease
S. Miyabayashi
J. -I. Hayashi
K. Tada
JSSIEM Meeting Pages: 606 - 610
Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism
N. Sugiyama
I. Matsuda
K. Kidouchi
JSSIEM Meeting Pages: 611 - 615
Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease
F. Endo
K. Taketa
I. Matsuda
JSSIEM Meeting Pages: 616 - 620
Prenatal diagnosis in a new peroxisomal disease by the W-particle separation method
J. Aikawa
T. Noro
K. Tada
JSSIEM Meeting Pages: 621 - 625
Peroxisomal functions in Mulibrey nanism
R. B. H. Schutgens
M. Ryynänen
R. J. A. Wanders
Short Report Pages: 626 - 626
Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes
H. D. Vallance
J. R. Toone
D. A. Applegarth
Short Report Pages: 627 - 628
Reduced stimulability of platelet surface adhesion molecules under treatment with Lorenzo's oil
H. Toplak
T. C. Wascher
S. Stöckler
Short Report Pages: 628 - 629
Fatty acid supplementation in a case of maternal phenylketonuria
M. Giovannini
G. Biasucci
E. Riva
Short Report Pages: 630 - 631
Monitoring of a one-month ascorbic acid therapy in an alcaptonuric child; determinations by HPLC
R. E. Simoni
L. N. F. Gomes
M. L. Costa de Oliveira
Short Report Pages: 632 - 633
Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA
Y. Campos
J. Bautista
J. Arenas
Short Report Pages: 634 - 635
Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease
M. B. Krawinkel
H. D. Oldigs
J. Schaub
Case Report Pages: 636 - 637
Citrullinaemia and isolated sulphite oxidase deficiency in two siblings
L. Vilarinho
J. Ramos Alves
P. Parvy
Case Report Pages: 638 - 639
Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities
H. D. Bakker
M. E. Rubio Gozalbo
A. H. van Gennip
Case Report Pages: 640 - 641
Phenylketonuria with familial hyperglycinuria
J. M. Sales Marques
Case Report Pages: 641 - 641
Formiminoglutamic/hydantoinpropionic aciduria in three patients with different tumours
A. H. van Gennip
N. G. G. M. Abeling
H. D. Bakker
Case Report Pages: 642 - 643

Volume 17, Issue 5

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