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A proposed nosology of inborn errors of metabolism

Genetics in medicine, 2019-01, Vol.21 (1), p.102-106

2019

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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.170-170, Article 170

2021

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Molecular identification in metabolomics using infrared ion spectroscopy

Scientific reports, 2017-06, Vol.7 (1), p.3363-5, Article 3363

2017

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All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

Scientific reports, 2024-06, Vol.14 (1), p.13772-10

2024

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Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.435-445

2018

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NAD+ homeostasis in human health and disease

EMBO molecular medicine, 2021-07, Vol.13 (7), p.e13943-n/a

2021

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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.138-138, Article 138

2021

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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.346-11, Article 346

2024

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.357-16, Article 357

2024

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Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.197-197, Article 197

2014

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1380

2017

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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.337-353

2018

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Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

Frontiers in neurology, 2023-07, Vol.14, p.1206106-1206106

2023

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Inborn disorders of the malate aspartate shuttle

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.792-808

2021

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The genotypic and phenotypic spectrum of PIGA deficiency

Orphanet journal of rare diseases, 2015-02, Vol.10 (1), p.23-23, Article 23

2015

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The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Genetics in medicine, 2020-02, Vol.22 (2), p.292-300

2020

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Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

Molecular genetics and metabolism, 2012-03, Vol.105 (3), p.368-381

2012

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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

BMC genomics, 2017-05, Vol.18 (1), p.403-403, Article 403

2017

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The role of the clinician in the multi-omics era: are you ready?

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.571-582

2018

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Exploring genotype–phenotype correlations in glutaric aciduria type 1

Journal of inherited metabolic disease, 2023-05, Vol.46 (3), p.371-390

2023

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A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.712-715

2017

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.353-361

2019

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192

2021

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Metabolite Identification Using Infrared Ion SpectroscopyNovel Biomarkers for Pyridoxine-Dependent Epilepsy

Analytical chemistry (Washington), 2021-11, Vol.93 (46), p.15340-15348

2021

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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Allergy, asthma, and clinical immunology, 2021-01, Vol.17 (1), p.9-9, Article 9

2021

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A proposed nosology of inborn errors of metabolism

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

Molecular identification in metabolomics using infrared ion spectroscopy

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

NAD+ homeostasis in human health and disease

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

Inborn disorders of the malate aspartate shuttle

The genotypic and phenotypic spectrum of PIGA deficiency

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

The role of the clinician in the multi-omics era: are you ready?

Exploring genotype–phenotype correlations in glutaric aciduria type 1

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Metabolite Identification Using Infrared Ion SpectroscopyNovel Biomarkers for Pyridoxine-Dependent Epilepsy

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

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