Volume 28, 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 2005

14 articles in this issue

Publisher’s Announcement

Announcement Pages: iii - iii
Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: ‘Proof of principle’ in acid sphingomyelinase-deficient mice
A. Butler
S. C. Henderson
E. H. Schuchman
OriginalPaper Pages: 1 - 12
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
J. Brinkman
F. A. Wijburg
J. M. Aerts
OriginalPaper Pages: 13 - 20
Monitoring enzyme replacement therapy in Fabry disease—Role of urine globotriaosylceramide
P. D. Whitfield
J. Calvin
P. B. Deegan
OriginalPaper Pages: 21 - 33
Erratum
García-Silva
Erratum Pages: 34 - 34
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
K. Mills
P. Morris
B. Winchester
OriginalPaper Pages: 35 - 48
Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency
M. Iida
T. Yasuhara
H. Kubo
OriginalPaper Pages: 49 - 55
Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum
A. Latini
K. Scussiato
M. Wajner
OriginalPaper Pages: 57 - 67
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome
M. Rossi
G. Federico
G. Andria
OriginalPaper Pages: 69 - 80
Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment
I. P. Hargreaves
Y. Sheena
S. J. R. Heales
OriginalPaper Pages: 81 - 88
Screening for Menkes disease using the urine HVA/VMA ratio
M. Matsuo
R. Tasaki
Y. Hamasaki
OriginalPaper Pages: 89 - 93
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency
K. de Meer
M. J. Roef
B. T. Poll-The
Short Report Pages: 95 - 98
Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment
B. Schwahn
G. Kameda
E. Mayatepek
Short Report Pages: 99 - 102
Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I
N. André
B. Roquelaure
C. Ovaert
Short Report Pages: 103 - 106

Volume 28, Issue 1

Publisher’s Announcement

Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: ‘Proof of principle’ in acid sphingomyelinase-deficient mice

Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease

Monitoring enzyme replacement therapy in Fabry disease—Role of urine globotriaosylceramide

Erratum

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency

Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum

Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome

Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

Screening for Menkes disease using the urine HVA/VMA ratio

Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment

Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I

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