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American Journal of Medical Genetics|April 6, 2000
A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficitsK Schilke, F Schaefer, R Waldherr, et al.
Pediatric Research|July 10, 1999
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysisD Matern, A W Strauss, S L Hillman, et al.
American Journal of Medical Genetics|March 1, 1989
Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findingsE Mayatepek, T W Kurczynski, E S Ruppert, et al.
The International Journal of Tuberculosis and Lung Disease : the Official Journal of the International Union Against Tuberculosis and Lung Disease|February 23, 2017
Multiple cytokines for the detection of Mycobacterium tuberculosis infection in children with tuberculosisN Nausch, C Lundtoft, G Schulz, et al.
Neuropediatrics|May 8, 2008
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H)A Koy, B Ilkovski, N Laing, et al.
European Journal of Dermatology : EJD|May 19, 2001
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type IS Niiyama, S Koelker, I Degen, et al.
Journal of Inherited Metabolic Disease|June 20, 2008
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combinationM Lindner, S Ho, S Kölker, et al.
Journal of Inherited Metabolic Disease|September 3, 1999
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysisJ Zschocke, E Quak, A Knauer, et al.
Klinische Padiatrie|March 1, 1993
[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]R Voll, G F Hoffmann, C G Lipinski, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic optionsA P Burlina, G Zara, G F Hoffmann, et al.
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