Birgit Kustermann Kuhn

Ontology type: schema:Person     

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Kustermann Kuhn

Publications in SciGraph latest 50 shown

  • 2014-12 Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort in ORPHANET JOURNAL OF RARE DISEASES
  • 1998-06 Biochemical findings in a breeding colony of Alaskan Huskies suffering from GM1-gangliosidosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-12 Leptomeningeal lipid storage patterns in Fabry disease in ACTA NEUROPATHOLOGICA
  • 1991-06 Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-09 Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • 1989-10 Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses in EUROPEAN JOURNAL OF PEDIATRICS
  • 1989-04 A case of combined Farber and Sandhoff disease in EUROPEAN JOURNAL OF PEDIATRICS
  • 1989-01 B1 Variant of GM2 Gangliosidosis in a 12-Year-Old Patient1 in PEDIATRIC RESEARCH
  • 1984-10 Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE) in HUMAN GENETICS
  • 1983-12 Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms in HUMAN GENETICS
  • 1979-08 Inheritance of multiple drug resistance in Saccharomyces cerevisiae: Linkage to leu1 and analyses of 2 μm DNA in partial revertants in MOLECULAR GENETICS AND GENOMICS
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