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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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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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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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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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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

2015

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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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Jürgen Herwig

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

2015

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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

2013

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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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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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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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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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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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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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Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

Journal of lipid research, 1999-02, Vol.40 (2), p.221-228

1999

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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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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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False Diagnosis of Maple Syrup Urine Disease Owing to Ingestion of Herbal Tea

The New England journal of medicine, 1999-09, Vol.341 (10), p.769-769

1999

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Antibiotic treatment-induced tubular dysfunction as a risk factor for renal stone formation in cystic fibrosis

The Journal of pediatrics, 2002-01, Vol.140 (1), p.103-109

2002

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Acceptance of extended newborn screening: the problem of parental non-compliance

European journal of pediatrics, 2004-12, Vol.163 (12), p.755-756

2004

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Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography–mass spectrometry

Clinica chimica acta, 2000-02, Vol.292 (1), p.93-105

2000

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

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

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

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

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

Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier

An inherited episodic head tremor syndrome in Doberman pinscher dogs

Jürgen Herwig

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

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

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

Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease

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

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

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

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

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

Feline primary hyperoxaluria

Paediatric age-dependent serum transferrin isoform distribution studied by HPLC

False Diagnosis of Maple Syrup Urine Disease Owing to Ingestion of Herbal Tea

Antibiotic treatment-induced tubular dysfunction as a risk factor for renal stone formation in cystic fibrosis

Acceptance of extended newborn screening: the problem of parental non-compliance

Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography–mass spectrometry

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