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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.115-124

2016

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L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes, 2021-05, Vol.12 (5), p.682

2021

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Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

Genes, 2020-07, Vol.11 (7), p.774

2020

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Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier

The Journal of the American Animal Hospital Association, 2015-07, Vol.51 (4), p.285-288

2015

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A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy

G3 : genes - genomes - genetics, 2018-05, Vol.8 (5), p.1545-1554

2018

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An inherited episodic head tremor syndrome in Doberman pinscher dogs

Movement disorders, 2011-11, Vol.26 (13), p.2381-2386

2011

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Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency

The Journal of the American Animal Hospital Association, 2013-05, Vol.49 (3), p.197-203

2013

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Jürgen Herwig

Journal of inherited metabolic disease, 2015-07, Vol.38 (4), p.775-775

2015

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Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds

American journal of veterinary research, 2012-08, Vol.73 (8), p.1194-1199

2012

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THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO )

Journal of zoo and wildlife medicine, 2018-06, Vol.49 (2), p.335-344

2018

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Interference of an algal nutritional supplement with a urinary metabolic screening test for glycosaminoglycans in a dog suspected to have a storage disease

Veterinary clinical pathology, 2013-12, Vol.42 (4), p.504-507

2013

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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

Biochimica et biophysica acta, 2010-07, Vol.1802 (7), p.639-648

2010

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Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats

Veterinary clinical pathology, 2012-12, Vol.41 (4), p.548-557

2012

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Inherited metabolic disease in companion animals: Searching for nature’s mistakes

The veterinary journal (1997), 2007-09, Vol.174 (2), p.252-259

2007

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The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

The Journal of biological chemistry, 2004-10, Vol.279 (41), p.42742-42749

2004

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Impact of β-galactosidase mutations on the expression of the canine lysosomal multienzyme complex

Biochimica et biophysica acta, 2009-10, Vol.1792 (10), p.982-987

2009

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Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods — misleading results given by the %CDT TIA assay

Clinica chimica acta, 2006-11, Vol.373 (1), p.117-120

2006

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Pediatric research, 2001, Vol.49 (1), p.18-23

2001

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Verlaufsuntersuchungen bei Deutschen Jagdterriern mit belastungsabhängiger metabolischer Myopathie

Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere, 2019-12, Vol.47 (6), p.402-410

2019

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Feline primary hyperoxaluria

Journal of feline medicine and surgery, 2006-08, Vol.8 (4), p.290-290

Sewell, Adrian C.

2006

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Paediatric age-dependent serum transferrin isoform distribution studied by HPLC

Clinical laboratory (Heidelberg), 2007, Vol.53 (9-12), p.575

2007

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Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease

Clinical chemistry (Baltimore, Md.), 2002-02, Vol.48 (2), p.357-359

2002

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Normoxic cardiopulmonary bypass reduces oxidative myocardial damage and nitric oxide during cardiac operations in the adult

The Journal of thoracic and cardiovascular surgery, 1998-08, Vol.116 (2), p.327-334

1998

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Simultaneous enantioselective analysis of chiral urinary metabolites in patients with Zellweger syndrome

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2003-07, Vol.792 (2), p.269-277

2003

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Multidimensional gas chromatography–mass spectrometry for tracer studies of fatty acid metabolism via stable isotopes in cultured human trophoblast cells

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2003-07, Vol.791 (1), p.235-244

2003

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy

An inherited episodic head tremor syndrome in Doberman pinscher dogs

Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency

Jürgen Herwig

Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds

THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO )

Interference of an algal nutritional supplement with a urinary metabolic screening test for glycosaminoglycans in a dog suspected to have a storage disease

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats

Inherited metabolic disease in companion animals: Searching for nature’s mistakes

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Impact of β-galactosidase mutations on the expression of the canine lysosomal multienzyme complex

Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods — misleading results given by the %CDT TIA assay

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Verlaufsuntersuchungen bei Deutschen Jagdterriern mit belastungsabhängiger metabolischer Myopathie

Feline primary hyperoxaluria

Paediatric age-dependent serum transferrin isoform distribution studied by HPLC

Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease

Normoxic cardiopulmonary bypass reduces oxidative myocardial damage and nitric oxide during cardiac operations in the adult

Simultaneous enantioselective analysis of chiral urinary metabolites in patients with Zellweger syndrome

Multidimensional gas chromatography–mass spectrometry for tracer studies of fatty acid metabolism via stable isotopes in cultured human trophoblast cells

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