D. Skladal

发表

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients

S. Seneca, H. Mandel, L. de Meirleir, 2003, Human mutation.

Oral creatine supplementation in Duchenne muscular dystrophy: A clinical and 31 P magnetic resonance spectroscopy study

S. Felber, C. Kremser, A. Koller, 2000, Neurological research.

The therapeutic potential of oral creatine supplementation in muscle disease.

M. Wyss, S. Felber, C. Kremser, 1998, Medical hypotheses.

Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P.

J. Tissot, W. Sperl, C. Bachmann, 1997, The Journal of laboratory and clinical medicine.

Clinical and experimental results on cardiac troponin expression in Duchenne muscular dystrophy.

J. Mair, B. Puschendorf, S. Sorichter, 2001, Clinical chemistry.

Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome

W. Sperl, C. Bachmann, H. Henry, 1996, Journal of Inherited Metabolic Disease.

Normal Ascorbic Acid in Cerebrospinal Fluid of Patients with Infantile Neuronal Ceroid-Lipofuscinosis

J. Sass, M. Brunner-Krainz, D. Skladal, 1999, Metabolic Brain Disease.

Different clinical aspects of debrancher deficiency myopathy

S. Kiechl, J. Willeit, D. Skladal, 1999, Journal of neurology, neurosurgery, and psychiatry.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

V. Petruzzella, J. Smeitink, L. P. Van den Heuvel, 2003, Journal of Inherited Metabolic Disease.

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

D. Thorburn, J. Halliday, David R Thorburn, 2003, Brain : a journal of neurology.

Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency

J. Sass, D. Skladal, 1999, Pediatric Nephrology.

Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.

P. Vreken, J. Sass, H. Geiger, 2000, Journal of pediatric gastroenterology and nutrition.

Propionic Acidemia Revisited: A Workshop Report

J. Sass, E. Mayatepek, W. Sperl, 2004, Clinical pediatrics.

Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid

J. Sass, N. Romani, B. Utermann, 2004, Archives of Dermatological Research.

Lung function and symptom perception in children with asthma and their parents

H. Ulmer, E. Horak, D. Skladal, 2003, Pediatric pulmonology.

The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

J. Zeman, J. Zeman, S. Stöckler‐Ipsiroglu, 2003, Clinical pediatrics.

Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I

D. Skladal, Joachim Sass, 2000, Journal of Paediatrics and Child Health.

Complications of percutaneous insertion of Hickman catheters in children.

E. Horak, B. Simma, D. Skladal, 1999, Journal of pediatric surgery.

High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders

M. Wyss, W. Sperl, F. Gellerich, 1997, Molecular and Cellular Biochemistry.

Odd-numbered long-chain fatty acids in propionic acidaemia

T. Suormala, J. Sass, W. Sperl, 2000, European Journal of Pediatrics.

Plasma leptin in prepubertal patients with glycogen storage diseases.

J. Sass, D. Skladal, 2000, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

EEG-alterations in patients with propionic acidemia

S. Felber, E. Trinka, L. Zimmerhackl, 2004 .

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

C. Pérez-Cerdá, J. Sass, M. Ugarte, 1999, Human mutation.

Polarographic studies of saponin-skinned muscle fibres in patients with mitochondrial myopathies

W. Sperl, F. Gellerich, E. Gnaiger, 1994, Journal of Inherited Metabolic Disease.

Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?

W. Sperl, G. Bongaerts, R. Severijnen, 2005, Scandinavian journal of gastroenterology.

Methionine Loading in a Down's Syndrome Patient with Cerebral Infarction

J. Sass, E. Viertler, D. Skladal, 1999, Annals of clinical biochemistry.