R. Baumgartner

发表

Biotinidase deficiency: metabolites in CSF

P. Balestri, A. Fois, C. Bachmann, 1986, Journal of Inherited Metabolic Disease.

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

E. Jellum, P. Strømme, O. Stokke, 1995, Clinical genetics.

Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease?

H. Bremer, E. Mayatepek, G. Hoffmann, 1996, European Journal of Pediatrics.

Maternal vegan diet causing a serious infantile neurological disorder due to vitamin B12 deficiency

T. Kühne, R. Baumgartner, R. Bubl, 2005, European Journal of Pediatrics.

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

T. Suormala, G. Buck, B. Wolf, 1997, Human Genetics.

Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy in Vivo and Comparative Biochemical Studies in Vi1

T. Suormala, M. Durán, A. Fuchshuber, 1997, Pediatric Research.

Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia

L. Bouwens, G. Klöppel, H. Dorchy, 1993, Diabetologia.

Thrombomodulin and ristocetincofactor in homocystinuria: a study in two siblings.

P. Nawroth, R. Seitz, B. Fowler, 1995, Thrombosis research.

Severe liver fibrosis in argininosuccinic aciduria.

A. Zimmermann, C. Bachmann, R. Baumgartner, 1986, Archives of pathology & laboratory medicine.

Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.

T. Suormala, R. Baumgartner, J. Geisert, 1982, Helvetica paediatrica acta.

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

T. Suormala, A. Mühl, R. Baumgartner, 2003, European Journal of Pediatrics.

Proliferation and differentiation of cultured human follicular keratinocytes are not influenced by biotin

T. Suormala, E. Waelti, L. Braathen, 2006, Archives of Dermatological Research.

Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

T. Suormala, C. Bannwart, B. Wermuth, 1992, Journal of Inherited Metabolic Disease.

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis

T. Suormala, R. Gitzelmann, S. Fanconi, 1987, Journal of Inherited Metabolic Disease.

Biotinidase deficiency: Clinical course and biochemical findings

T. Suormala, C. Bachmann, G. Schubiger, 1984, Journal of Inherited Metabolic Disease.

Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.

A. Superti-Furga, M. Di Rocco, C. Bachmann, 1984, Journal of inherited metabolic disease.

Improved prenatal diagnosis of methylmalonic acidemia: Mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine

B. Tauscher, F. Trefz, G. Hammersen, 1981, European Journal of Pediatrics.

Methylmalonic acidaemia due to mutase apoenzyme defect: Responsive to vitamin B12 in intact fibroblasts but notin vivo

O. Giardini, A. Cantani, M. Castro, 1982, Journal of Inherited Metabolic Disease.

Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels

M. Durán, H. Bremer, D. Ketting, 1979, European Journal of Pediatrics.

[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].

T. Suormala, S. Schweitzer, J. Sander, 1991, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

Variants of citrullinaemia.

M. Mihatsch, C. Bachmann, J. Colombo, 1973, Archives of disease in childhood.

Folate distribution in cultured human cells. Studies on 5,10-CH2-H4PteGlu reductase deficiency.

D. Rosenblatt, P. Wong, R. Baumgartner, 1979, The Journal of clinical investigation.

Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency

R. Baumgartner, H. Wick, K. Schweizer, 1977, Agents and Actions.

Vascular lesions in two patients with congenital homocystinuria due to different defects of remethylation

A. Probst, R. Maurer, R. Baumgartner, 1980, Journal of Inherited Metabolic Disease.

Odd-numbered long-chain fatty acids in propionic acidaemia

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

Cardiomyopathy in respiratory chain disorders.

B. Fowler, F. Wyler, R. Baumgartner, 1995, Archives of disease in childhood.

Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient

T. Suormala, A. Ribes, P. Briones, 1990, European Journal of Pediatrics.

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

T. Suormala, R. Wevers, O. Diggelen, 1995, Journal of Inherited Metabolic Disease.

Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings

R. Seitz, B. Fowler, R. Baumgartner, 1994, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

[Non-ketotic hyperglycinemia: peracute course in neonatal period].

M. Mihatsch, C. Bachmann, A. Olafsson, 1971, Helvetica paediatrica acta.