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Composition of commercial media used for human embryo culture

Fertility and sterility, 2014-09, Vol.102 (3), p.759-766.e9

2014

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Newborn screening for lysosomal storage disorders

Seminars in perinatology, 2015-04, Vol.39 (3), p.206-216

2015

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Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy

Clinical chemistry (Baltimore, Md.), 2018-12, Vol.64 (12), p.1753-1761

2018

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Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.521-526

2010

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Precision newborn screening for lysosomal disorders

Genetics in medicine, 2018-08, Vol.20 (8), p.847-854

2018

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Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.831-843

2017

Volltextzugriff (PDF)

Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots

PloS one, 2021-05, Vol.16 (5), p.e0252621-e0252621

2021

Volltextzugriff (PDF)

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Orphanet journal of rare diseases, 2018-02, Vol.13 (1), p.30-30, Article 30

2018

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

Genetics in medicine, 2020-06, Vol.22 (6), p.1108-1118

2020

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Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2018-12, Vol.20 (12), p.1499-1507

2018

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Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

Clinical chemistry (Baltimore, Md.), 2016-09, Vol.62 (9), p.1248-1254

2016

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Embryonic lethality in mice due to carnitine transporter OCTN2 defect and placental carnitine deficiency

Placenta (Eastbourne), 2018-09, Vol.69, p.71-73

2018

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Fatty acid oxidation disorders

Annual review of physiology, 2002-01, Vol.64 (1), p.477-502

2002

Volltextzugriff (PDF)

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

Clinical chemistry (Baltimore, Md.), 2010-11, Vol.56 (11), p.1686-1695

2010

Volltextzugriff (PDF)

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Developmental disabilities research reviews, 2013-06, Vol.17 (3), p.247-253

2013

Volltextzugriff (PDF)

O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics

Genetics in Medicine Open, 2024, Vol.2, p.100876, Article 100876

2024

Volltextzugriff (PDF)

P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation

Genetics in Medicine Open, 2024, Vol.2, p.100904, Article 100904

2024

Volltextzugriff (PDF)

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase

Molecular genetics and metabolism reports, 2024-09, Vol.40, p.101110, Article 101110

2024

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

Human molecular genetics, 2011-04, Vol.20 (7), p.1285-1289

2011

Volltextzugriff (PDF)

TATN-1 mutations reveal a novel role for tyrosine as a metabolic signal that influences developmental decisions and longevity in Caenorhabditis elegans

PLoS genetics, 2013-12, Vol.9 (12), p.e1004020

2013

Volltextzugriff (PDF)

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism, 2009-03, Vol.96 (3), p.85-90

2009

Volltextzugriff (PDF)

367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory

Journal of clinical and translational science, 2023-04, Vol.7 (s1), p.109-109

2023

Volltextzugriff (PDF)

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.213-218

2021

Volltextzugriff (PDF)

P674: Designing an untargeted metabolomics assay to detect biomarkers for inborn errors of metabolism in the clinical laboratory

Genetics in Medicine Open, 2023, Vol.1 (1), p.100739, Article 100739

2023

Volltextzugriff (PDF)

P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care

Genetics in Medicine Open, 2023, Vol.1 (1), p.100028, Article 100028

2023

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Composition of commercial media used for human embryo culture

Newborn screening for lysosomal storage disorders

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

Precision newborn screening for lysosomal disorders

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

Embryonic lethality in mice due to carnitine transporter OCTN2 defect and placental carnitine deficiency

Fatty acid oxidation disorders

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics

P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

TATN-1 mutations reveal a novel role for tyrosine as a metabolic signal that influences developmental decisions and longevity in Caenorhabditis elegans

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

P674: Designing an untargeted metabolomics assay to detect biomarkers for inborn errors of metabolism in the clinical laboratory

P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care

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