• Issue

    Journal of Inherited Metabolic Disease: Volume 29, Issue 1

    1-258
    February 2006
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Articles

Editorial

Johannes Zschocke,  Georg F. Hoffmann,  Garry Brown,  K. Michael Gibson,  Verena Peters, 
  • Page: 1
  • First Published: February 2006

SSIEM column

Dr Philip Lee, 
  • Page: 2
  • First Published: February 2006

Review

Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview

R. Castro,  I. Rivera,  H. J. Blom,  C. Jakobs,  I. Tavares de Almeida, 
  • Pages: 3-20
  • First Published: 01 February 2006

Metabolic Dissertation

D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect

Eduard A. Struys, 
  • Pages: 21-29
  • First Published: February 2006

Original Articles

Asymmetric dimethylarginine in homocystinuria due to cystathionine β-synthase deficiency: Relevance of renal function

David E. L. Wilcken,  Jun Wang,  Ah Siew Sim,  Kathryn Green,  Bridget Wilcken, 
  • Pages: 30-37
  • First Published: February 2006

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

V. Leuzzi,  C. Carducci,  C. Carducci,  F. Chiarotti,  C. Artiola,  T. Giovanniello,  I. Antonozzi, 
  • Pages: 38-46
  • First Published: February 2006

Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU)

A. M. Hvas,  E. Nexo,  J. B. Nielsen, 
  • Pages: 47-53
  • First Published: February 2006

Cardiomyopathy in tyrosinaemia type I is common but usually benign

N. Arora,  O. Stumper,  J. Wright,  D. A. Kelly,  P. J. McKiernan, 
  • Pages: 54-57
  • First Published: February 2006

Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia

L. Aldámiz-Echevarría,  P. Sanjurjo,  J. Elorz,  J. A. Prieto,  C. Pérez,  F. Andrade,  J. Rodríguez-Soriano, 
  • Pages: 58-63
  • First Published: February 2006

A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase

C. Mir,  E. Lopez-Viñas,  R. Aledo,  B. Puisac,  C. Rizzo,  C. Dionisi-Vici,  F. Deodato,  J. Pié,  P. Gomez-Puertas,  F. G. Hegardt,  N. Casals, 
  • Pages: 64-70
  • First Published: February 2006

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

Nadia A. Oey,  Jos P. N. Ruiter,  Tania Attié-Bitach,  Lodewijk IJlst,  Ronald J. A. Wanders,  Frits A. Wijburg, 
  • Pages: 71-75
  • First Published: February 2006

The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

D. M. Frazier,  D. S. Millington,  S. E. McCandless,  D. D. Koeberl,  S. D. Weavil,  S. H. Chaing,  J. Muenzer, 
  • Pages: 76-85
  • First Published: February 2006

Measurement of ATP production in mitochondrial disorders

R. K. Shepherd,  N. Checcarelli,  A. Naini,  D. C. De Vivo,  S. DiMauro,  C. M. Sue, 
  • Pages: 86-91
  • First Published: 01 February 2006

Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients

A. El-Beshlawy,  L. Ragab,  I. Youssry,  K. Yakout,  H. El-Kiki,  K. Eid,  I. M. Mansour,  S. Abd El-Hamid,  M. Yang,  P. K. Mistry, 
  • Pages: 92-98
  • First Published: February 2006

Psychological complications of patients with Gaucher disease

W. Packman,  T. Wilson Crosbie,  A. Riesner,  C. Fairley,  S. Packman, 
  • Pages: 99-105
  • First Published: February 2006

Manifestations of Fabry disease in placental tissue

A. C. Vedder,  A. Strijland,  M. A. vd Bergh Weerman,  S. Florquin,  J. M. F. G. Aerts,  C. E. M. Hollak, 
  • Pages: 106-111
  • First Published: February 2006

The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease

R. J. Kalliokoski,  I. Kantola,  K. K. Kalliokoski,  E. Engblom,  J. Sundell,  J. C. Hannukainen,  T. Janatuinen,  O. T. Raitakari,  J. Knuuti,  M. Penttinen,  J. Viikari,  P. Nuutila, 
  • Pages: 112-118
  • First Published: February 2006

Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis

J.-Y. Lu,  S. L. Hofmann, 
  • Pages: 119-126
  • First Published: February 2006

Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency

L. Wang,  W.-M. Yu,  C. He,  M. Chang,  M. Shen,  Z. Zhou,  Z. Zhang,  S. Shen,  T.-T. Liu,  K.-J. Hsiao, 
  • Pages: 127-134
  • First Published: February 2006

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

C. Conter,  M. O. Rolland,  D. Cheillan,  V. Bonnet,  I. Maire,  R. Froissart, 
  • Pages: 135-142
  • First Published: February 2006

Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency

Elizabeth A. Donarum,  Dietrich A. Stephan,  Kay Larkin,  Eric J. Murphy,  Maneesh Gupta,  Henry Senephansiri,  Robert C. Switzer,  Phillip L. Pearl,  O. Carter Snead,  C. Jakobs,  K. Michael Gibson, 
  • Pages: 143-156
  • First Published: February 2006

Biochemical compared to molecular diagnosis in acute intermittent porphyria

U. Groß,  H. Puy,  K. Jacob,  J. C. Deybach,  J. Kremer,  M. O. Doss, 
  • Pages: 157-161
  • First Published: February 2006

Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children

R. A. Chalmers,  M. D. Bain,  H. Michelakakis,  J. Zschocke,  R. A. Iles, 
  • Pages: 162-172
  • First Published: February 2006

Images In Metabolic Medicine

Acrodermatitis acidaemia secondary to ‘overtreatment’ and protein deficiency

G. F. Hoffmann,  R. Happle,  S. Kölker, 
  • Pages: 173-174
  • First Published: February 2006

Short Report

A study on the nature of genetic metabolic practice at a major paediatric referral centre

H. C. Glass,  A. Feigenbaum,  J. T. R. Clarke, 
  • Pages: 175-178
  • First Published: February 2006

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

A. B. Burlina,  A. Peduto,  A. Di Palma,  A. Bellizzi,  D. Sperlì,  A. Morrone,  A. P. Burlina, 
  • Pages: 179-181
  • First Published: February 2006

Two cases of citrullinaemia presenting with stroke

J. H. Choi,  H. Kim,  H. W. Yoo, 
  • Pages: 182-183
  • First Published: February 2006

Successful liver transplantation for argininosuccinate lyase deficiency (ASLD)

E. Robberecht,  S. Maesen,  A. Jonckheere,  S. Van Biervliet,  D. Carton, 
  • Pages: 184-185
  • First Published: 01 February 2006

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

S. Fecarotta,  G. Parenti,  P. Vajro,  A. Zuppaldi,  R. Della Casa,  M. T. Carbone,  A. Correra,  G. Torre,  S. Riva,  C. Dionisi-Vici,  F. M. Santorelli,  G. Andria, 
  • Pages: 186-189
  • First Published: February 2006

The longest-surviving patient with classical maple syrup urine disease

Carel le Roux,  Elaine Murphy,  Maggie Lilburn,  Philip J. Lee, 
  • Pages: 190-194
  • First Published: 01 February 2006

Atypical phenotype in a boy with a maple syrup urine disease

T. I. Ben-Omran,  S. Blaser,  H. Phillips,  J. Callahan,  A. Feigenbaum, 
  • Pages: 195-200
  • First Published: February 2006

Neuropsychometric outcome predictors for adults with maple syrup urine disease

C. le Roux,  E. Murphy,  P. Hallam,  M. Lilburn,  D. Orlowska,  P. Lee, 
  • Pages: 201-202
  • First Published: 01 February 2006

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family

C. Sansaricq,  S. Pardo,  M. Balwani,  M. Grace,  K. Raymond, 
  • Pages: 203-204
  • First Published: February 2006

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

L. Pinto,  P. Zen,  R. Rosa,  G. Paskulin,  A. Perla,  L. Barea,  M. R. Baumgartner,  M. F. Dantas,  B. Fowler,  R. Giugliani,  C. Vargas,  M. Wajner,  C. Graziadio, 
  • Pages: 205-206
  • First Published: February 2006

Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

R. Aledo,  C. Mir,  R. N. Dalton,  C. Turner,  J. Pié,  F. G. Hegardt,  N. Casals,  M. P. Champion, 
  • Pages: 207-211
  • First Published: February 2006

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

M. J. H. Coenen,  J. A. M. Smeitink,  M. H. Farhoud,  L. G. J. Nijtmans,  R. Rodenburg,  A. Janssen,  E. P. M. van Kaauwen,  F. J. M. Trijbels,  L. P. van den Heuvel, 
  • Pages: 212-213
  • First Published: 01 February 2006

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

I. M. Anselm,  F. S. Alkuraya,  G. S. Salomons,  C. Jakobs,  A. B. Fulton,  M. Mazumdar,  M. Rivkin,  R. Frye,  T. Young Poussaint,  D. Marsden, 
  • Pages: 214-219
  • First Published: February 2006

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

P. Póo-Argüelles,  A. Arias,  M. A. Vilaseca,  A. Ribes,  R. Artuch,  A. Sans-Fito,  A. Moreno,  C. Jakobs,  G. Salomons, 
  • Pages: 220-223
  • First Published: February 2006

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

D. H. J. Martens,  T. W. Kuijpers,  N. A. Maianski,  J. P. Rake,  G. P. A. Smit,  G. Visser, 
  • Pages: 224-225
  • First Published: February 2006

The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II

H. R. Mundy,  J. E. Williams,  A. J. Cousins,  P. J. Lee, 
  • Pages: 226-229
  • First Published: February 2006

Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I

A. T. Anbu,  J. Mercer,  J. E. Wraith, 
  • Pages: 230-231
  • First Published: February 2006

Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries

H. Ishii,  T. Takahashi,  M. Toyono,  M. Tamura,  K. Harada,  M. Yoshida,  Y. Nishikawa,  K. Enomoto,  G. Takada, 
  • Pages: 232-234
  • First Published: February 2006

Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia

S. H. Hahn,  S. J. Minnich,  J. F. O'Brien, 
  • Pages: 235-237
  • First Published: February 2006

Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia

L. J. Schlapbach,  A. Sozzo,  G. Ramelli,  M. G. Bianchetti, 
  • Pages: 238-239
  • First Published: February 2006

Data Report

Dietary compliance in ornithine aminotransferase deficiency

Lucia Santos,  White J. Fiona,  John H. Walter, 
  • Page: 240
  • First Published: February 2006

Letter to the Editor

Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency

Konrad Oexle, 
  • Page: 241
  • First Published: February 2006

JIMD – Journal of Inherited Metabolic Disease

Instruction to Authors

  • Pages: 243-247
  • First Published: February 2006

Articles

Advertisements

  • Pages: 248-251
  • First Published: February 2006

Observations and Opinions

Notes and Queries in Metab-L: Diagnostic relevance of mild methylmalonic aciduria

  • Pages: 252-253
  • First Published: February 2006

Book Review

Atlas of Metabolic Diseases

Verena Peters PhD, 
  • Page: 254
  • First Published: February 2006

Articles

Obituaries

  • Pages: 255-257
  • First Published: February 2006

Finnegas

  • Page: 258
  • First Published: February 2006