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Journal of Inherited Metabolic Disease

Issue 5/2009

Content (9 Articles)

EDITORIAL

Neurometabolic disorders

Jean-Marie Saudubray

REVIEW

Mental retardation and inborn errors of metabolism

A. García-Cazorla, N. I. Wolf, M. Serrano, U. Moog, B. Pérez-Dueñas, P. Póo, M. Pineda, J. Campistol, G. F. Hoffmann

REVIEW

Epilepsy and inborn errors of metabolism in children

N. I. Wolf, A. García-Cazorla, G. F. Hoffmann

REVIEW

Inborn errors of metabolism and motor disturbances in children

A. García-Cazorla, N. I. Wolf, M. Serrano, B. Pérez-Dueñas, M. Pineda, J. Campistol, E. Fernández-Alvarez, J. Colomer, S. DiMauro, G. F. Hoffmann

Original Article

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

F. Hörster, S. F. Garbade, T. Zwickler, H. I. Aydin, O. A. Bodamer, A. B. Burlina, A. M. Das, J. B. C. De Klerk, C. Dionisi-Vici, S. Geb, G. Gökcay, N. Guffon, E. M. Maier, E. Morava, J. H. Walter, B. Schwahn, F. A. Wijburg, M. Lindner, S. Grünewald, M. R. Baumgartner, S. Kölker

ORIGINAL ARTICLE

Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model

C. N. Madhavarao, P. Arun, Y. Anikster, S. R. Mog, O. Staretz-Chacham, J. R. Moffett, N. E. Grunberg, W. A. Gahl, A. M. A. Namboodiri

Original Article

Management of neuronopathic Gaucher disease: Revised recommendations

A. Vellodi, A. Tylki-Szymanska, E. H. Davies, E. Kolodny, B. Bembi, T. Collin-Histed, E. Mengel, A. Erikson, R. Schiffmann

IMAGES IN METABOLIC MEDICINE

Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophy

C. P. Barnett, W.-C. Lam, A. Schulze

Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.