Volume 30, 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.

Search all Journal of Inherited Metabolic Disease articles

October 2007

45 articles in this issue

IEMs in adults
John Walter
Editorial 21 September 2007 Pages: 627 - 627
α-Ketoglutarate is the precursor of l-2-hydroxyglutarate
Henri Brunengraber
Editorial 21 September 2007 Pages: 628 - 628
Family conditions and dietary control in IEMs
Peter Burgard
Editorial 21 September 2007 Pages: 629 - 629
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
F. Sedel
N. Baumann
D. Cohen
Review 10 August 2007 Pages: 631 - 641
Peripheral neuropathy and inborn errors of metabolism in adults
F. Sedel
C. Barnerias
Jean-Marie Saudubray
Review 21 September 2007 Pages: 642 - 653
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease
E. H. Schuchman
Review 12 July 2007 Pages: 654 - 663
Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: Insight from animal studies
R. Pessoa-Pureur
M. Wajner
Review 14 June 2007 Pages: 664 - 672
Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency
S. W. Sauer
Metabolic Dissertation 21 September 2007 Pages: 673 - 680
l-2-Hydroxyglutaric aciduria, a defect of metabolite repair
R. Rzem
M.-F. Vincent
M. Veiga-da-Cunha
Original Article 21 June 2007 Pages: 681 - 689
Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid
E. A. Struys
K. M. Gibson
C. Jakobs
Original Article 17 September 2007 Pages: 690 - 693
Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature
M. Huemer
C. Huemer
S. Stöckler-Ipsiroglu
Original Article 11 July 2007 Pages: 694 - 699
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
B. K. Burton
D. K. Grange
A. Dorenbaum
Original Article 12 September 2007 Pages: 700 - 707
Family conditions and dietary control in phenylketonuria
G. M. Olsson
S. M. Montgomery
J. Alm
Original Article 14 June 2007 Pages: 708 - 715
Nutrient intake in lysinuric protein intolerance
L. M. Tanner
K. Näntö-Salonen
O. Simell
Original Article 21 June 2007 Pages: 716 - 721
High frequency of missense mutations in glycogen storage disease type VI
N. J. Beauchamp
J. Taybert
M. J. Sharrard
Original Article 21 August 2007 Pages: 722 - 734
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
M. M. Wamelink
D. E. Smith
C. Jakobs
Original Article 27 June 2007 Pages: 735 - 742
Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings
F. Santamaria
M. V. Andreucci
G. Andria
Original Article 14 June 2007 Pages: 743 - 749
Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I
O. I. I. Soliman
R. G. M. Timmermans
M. L. Geleijnse
Original Article Open access 14 June 2007 Pages: 750 - 757
Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
A. M. Montaño
K. Sukegawa
S. Tomatsu
Original Article 17 September 2007 Pages: 758 - 767
A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease
E. H. Davies
R. Surtees
A. Vellodi
Original Article 16 September 2007 Pages: 768 - 782
Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience
P. Grigorescu Sido
C. Drugan
A. Zimmermann
Original Article 20 August 2007 Pages: 783 - 789
Natural history of the respiratory involvement in Anderson–Fabry disease
S. Magage
J.-C. Lubanda
A. Linhart
Original Article 09 July 2007 Pages: 790 - 799
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice
A. Latini
K. Scussiato
M. Wajner
Original Article 21 September 2007 Pages: 800 - 810
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
Sandra G. Heil
Marije Hogeveen
Eva Morava
Short Report 04 September 2007 Pages: 811 - 811
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatment
M. D. Bóveda
M. L. Couce
J. M. Fraga
Short Report 21 June 2007 Pages: 812 - 812
Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome
J. A. Arranz
I. Madrigal
M. Milà
Short Report 14 June 2007 Pages: 813 - 813
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency
M. Di Rocco
A. R. Fantasia
A. Martini
Short Report 14 June 2007 Pages: 814 - 814
Prospective treatment in carnitine–acylcarnitine translocase deficiency
G. Pierre
A. Macdonald
A. Chakrapani
Short Report 12 May 2007 Pages: 815 - 815
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency
W.-L. Hwu
Y.-H. Chien
N.-C. Lee
Short Report 20 August 2007 Pages: 816 - 816
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties
A. Zia
E. H. Kolodny
G. M. Pastores
Short Report 19 May 2007 Pages: 817 - 817
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene
F. R. O. Calderon
L. Nelson
R. Mao
Short Report 17 September 2007 Pages: 818 - 818
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency
V. Krishnamurthy
K. Eschrich
D. D. Koeberl
Short Report 20 August 2007 Pages: 819 - 819
Successful treatment of severe heart failure in an infant with Hurler syndrome
A. Hirth
A. Berg
G. Greve
Short Report 04 September 2007 Pages: 820 - 820
Enzyme replacement therapy in 12 patients with MPS I–H/S with homozygous p.Leu490Pro mutation
R. S. Arora
J. Mercer
J. E. Wraith
Short Report 14 June 2007 Pages: 821 - 821
Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher disease
H. Michelakakis
C. Kariyannis
I. Papassotiriou
Short Report 20 August 2007 Pages: 822 - 822
Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM₁ gangliosidosis
Nicola Brunetti-Pierri
Asad Mian
Brett H. Graham
Short Report 22 August 2007 Pages: 823 - 823
Effect of treatment on biclonal gammopathy associated with Gaucher disease
O. Decaux
A. Ruelland
B. Grosbois
Short Report 21 September 2007 Pages: 824 - 824
Parotid gland involvement, the presenting sign of high grade non-Hodgkin lymphoma in two patients with Gaucher disease and sicca syndrome
L. Shvidel
E. Sigler
A. Berrebi
Short Report 20 August 2007 Pages: 825 - 825
Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year
Y.-H. Chien
N.-C. Lee
W.-L. Hwu
Short Report 21 June 2007 Pages: 826 - 826
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q₁₀ deficiency
A. Aeby
Y. Sznajer
P. Van Bogaert
Short Report 20 August 2007 Pages: 827 - 827
Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy
A. Petroni
M. Cappa
G. Uziel
Short Report 03 July 2007 Pages: 828 - 828
Mevalonic aciduria: Report of two cases
J. R. Bretón Martínez
A. Cánovas Martínez
F. Giménez Vázquez
Short Report 21 June 2007 Pages: 829 - 829
Bilateral renal cell carcinoma development in long-term Fabry disease
D. Cassiman
K. Claes
J. Jaeken
Images in Metabolic Medicine 12 May 2007 Pages: 830 - 831
Congenital adrenal hyperplasia: Diagnostic advances
T. Torresani
Anna Biason-Lauber
Erratum 30 August 2007 Pages: 832 - 832
The natural history of Niemann–Pick disease type C in the UK
J. Imrie
S. Dasgupta
J. E. Wraith
Erratum 13 August 2007 Pages: 833 - 833

Volume 30, Issue 5

Search

Navigation