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Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study

BMC pediatrics, 2024-01, Vol.24 (1), p.81-10, Article 81

2024

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Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

Clinical genetics, 2013-01, Vol.83 (1), p.73-77

2013

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Hydrolysed Formula Is a Risk Factor for Vitamin K Deficiency in Infants With Unrecognised Cholestasis

Journal of pediatric gastroenterology and nutrition, 2010-12, Vol.51 (6), p.773-776

2010

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l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.256-262

2010

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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

The Lancet (British edition), 2004-12, Vol.364 (9452), p.2221-2222

2004

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Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry

Analytica chimica acta, 2012-01, Vol.712, p.108-114

2012

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L-serine in disease and development

Biochemical journal, 2003-05, Vol.371 (Pt 3), p.653-661

2003

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d-Amino acids in the central nervous system in health and disease

Molecular genetics and metabolism, 2005-07, Vol.85 (3), p.168-180

2005

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Treatment with amino acids in serine deficiency disorders

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.347-351

Koning, T. J.

2006

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Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Nature genetics, 1999-06, Vol.22 (2), p.175-177

1999

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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

Human mutation, 2009-05, Vol.30 (5), p.749-756

2009

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Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency

Nutrition & metabolism, 2005-05, Vol.2 (1), p.12-12, Article 12

2005

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Glutathione synthetase deficiency associated with antenatal cerebral bleeding

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.275-276

2004

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Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

American Journal of Neuroradiology, 2007-08, Vol.28 (7), p.1223-1231

2007

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Serine-deficiency syndromes

Current opinion in neurology, 2004-04, Vol.17 (2), p.197-204

2004

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Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

American journal of human genetics, 2000-12, Vol.67 (6), p.1389-1399

2000

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Clinical Pearls - how my patients taught me: The fainting lark symptom

Journal of Clinical Movement Disorders (Online), 2016-11, Vol.3 (1), p.16, Article 16

2016

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The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.845-854

2005

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Congenital microcephaly and seizures due to 3‐phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

Journal of inherited metabolic disease, 2002-05, Vol.25 (2), p.119-125

2002

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O60 – 1707 Ataxia and areflexia precede progressive myoclonus ataxia in young children with GOSR2 mutation

European journal of paediatric neurology, 2013-09, Vol.17, p.S19-S19

2013

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A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Biochemical and biophysical research communications, 1998-04, Vol.245 (1), p.38-42

1998

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Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

Annals of neurology, 1998-08, Vol.44 (2), p.261-265

1998

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Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.673-679

2005

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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

Human mutation, 2000-09, Vol.16 (3), p.247-252

2000

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Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

Neuropediatrics, 2000-12, Vol.31 (6), p.287-292

2000

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Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

Hydrolysed Formula Is a Risk Factor for Vitamin K Deficiency in Infants With Unrecognised Cholestasis

l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry

L-serine in disease and development

d-Amino acids in the central nervous system in health and disease

Treatment with amino acids in serine deficiency disorders

Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency

Glutathione synthetase deficiency associated with antenatal cerebral bleeding

Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

Serine-deficiency syndromes

Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

Clinical Pearls - how my patients taught me: The fainting lark symptom

The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

Congenital microcephaly and seizures due to 3‐phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

O60 – 1707 Ataxia and areflexia precede progressive myoclonus ataxia in young children with GOSR2 mutation

A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

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