Concepedia

Author

Johannes Penzien

University Hospital Augsburg

Also Known As

J M Penzien, J Penzien, J. M. Penzien, J. Penzien, J.M. Penzien, Johannes M Penzien, Johannes M. Penzien, Johannes Penzien

15

Publications

882

Citations

12

H-Index

20

Concepts

All Affiliations

University Hospital AugsburgUniversity of BernHeidelberg UniversityUniversity Hospital HeidelbergFreie Universität Berlin
JP

About

Johannes Penzien is an author at University Hospital Augsburg specializing in medicine, pathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

4

4

160

2

Metabolism

2

2

48

3

Neurology

2

2

114

4

Social Sciences

1

1

51

5

Molecular Medicine

1

1

61

Johannes Penzien

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12

Publications

876

Citations

12

H-Index

YearCitations

Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis

Suzan Wopereis, Stephanie Grünewald, Éva Morava,

Clinical Chemistry

2003

138

Severe Hepatotoxicity During Valproate Therapy: An Update and Report of Eight New Fatalities

Armin König, H. Siemes, F Bläker,

Epilepsia

1994

134

Valproate (VPA) Metabolites in Various Clinical Conditions of Probable VPA‐Associated Hepatotoxicity

H. Siemes, H. Nau, K. Schultze,

Epilepsia

1993

98

Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli,

Human Mutation

2010

89

Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)

Dorothea Haas, Sven F. Garbade, Christine U. Vohwinkel,

Journal of Inherited Metabolic Disease

2007

73

Novel truncating and missense mutations of the <i>KCC3</i> gene associated with Andermann syndrome

G. Uyanık, Nursel Elçioğlu, Johannes Penzien,

Neurology

2006

66

Identification and Quantitation of Phenylalanine in the Brain of Patients with Phenylketonuria by Means of Localized in Vivo1H Magnetic-Resonance Spectroscopy

Roland Kreis, J. Pietz, Johannes Penzien,

Journal of Magnetic Resonance Series B

1995

63

Molecular and functional characterisation of mild MCAD deficiency

Johannes Zschocke, Andreas Schulze, Martin Lindner,

Human Genetics

2001

61

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.

Johannes Penzien, Joachim Kappler, N. Herschkowitz,

PubMed

1993

55

The Dynamics of Brain Concentrations of Phenylalanine and Its Clinical Significance in Patients with Phenylketonuria Determined by in Vivo H Magnetic Resonance Spectroscopy

J. Pietz, Roland Kreis, Chris Boesch,

Pediatric Research

1995

51

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