G. Hoffmann

发表

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

I. Harting, E. Boltshauser, E. Martin, 2005, Neurology.

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.

V. Ramaekers, J. Zschocke, S. Kölker, 2001, The Journal of pediatrics.

Cerebrospinal Fluid Investigations for Neurometabolic Disorders

R. Surtees, R. Wevers, G. Hoffmann, 1998, Neuropediatrics.

Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach

S. Kölker, J. Okun, G. Hoffmann, 2008, Journal of Inherited Metabolic Disease.

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

H. Simmonds, G. Hoffmann, M. Vincent, 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

M. Pourfarzam, J. Zschocke, S. Kölker, 2003, Neuropediatrics.

Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF

R. Robinson, R. Surtees, R. Wevers, 2004, Neurology.

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.

F. Hanefeld, H. Bremer, C. Roe, 1991, Pediatrics.

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

M. Durán, R. Surtees, C. Greenberg, 2007, Journal of Inherited Metabolic Disease.

Glutaric aciduria and suspected child abuse

J. Leonard, G. Hoffmann, E. Naughten, 1999, Archives of disease in childhood.

Aromatic L-Amino Acid Decarboxylase Deficiency with Hyperdopaminuria. Clinical and Laboratory Findings in Response to Different Therapies

L. Lagae, R. Wevers, G. Hoffmann, 2002, Neuropediatrics.

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency

R. Wevers, P. Barth, N. Abeling, 2000, Journal of Inherited Metabolic Disease.

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: Biochemical findings in two patients

R. Wevers, G. Hoffmann, C. Bräutigam, 2000, Journal of Inherited Metabolic Disease.

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?

M. Durán, A. V. van Kuilenburg, R. Wevers, 1997, Journal of Inherited Metabolic Disease.

Mild trimethylaminuria caused by common variants in FM03 gene

E. Mayatepek, G. Hoffmann, J. Zschocke, 1999, The Lancet.

Biochemical hallmarks of tyrosine hydroxylase deficiency.

F. Gabreëls, R. Wevers, J. Smeitink, 1998, Clinical chemistry.

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

P. Bachert, E. Mayatepek, G. Hoffmann, 2006, Neurology.

Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood‐onset dystonia

R. Surtees, G. Hoffmann, B. Assmann, 2003, Annals of neurology.

Tetrahydrobiopterin deficiency in human rabies

C. Rupprecht, C. Drosten, R. Willoughby, 2009, Journal of Inherited Metabolic Disease.

Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.

H. Kehrer-Sawatzki, H. Rehder, C. Fonatsch, 1999, American journal of medical 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.