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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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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, Article 13772

2024

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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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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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NAD+ homeostasis in human health and disease

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

2021

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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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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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2022 Overview of Metabolic Epilepsies

Genes, 2022-03, Vol.13 (3), p.508

2022

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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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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.1380-1395

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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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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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 treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases

Orphanet journal of rare diseases, 2012-07, Vol.7 (1), p.47-47

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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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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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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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 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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Treatment of ARS deficiencies with specific amino acids

Genetics in medicine, 2021-11, Vol.23 (11), p.2202-2207

2021

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The role of clinical response to treatment in determining pathogenicity of genomic variants

Genetics in medicine, 2021-03, Vol.23 (3), p.581-585

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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Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes

European journal of pediatrics, 2023-09, Vol.182 (9), p.3805-3831

2023

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A proposed nosology of inborn errors of metabolism

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

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

Molecular identification in metabolomics using infrared ion spectroscopy

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

NAD+ homeostasis in human health and disease

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

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

2022 Overview of Metabolic Epilepsies

Treatable inborn errors of metabolism causing intellectual disability: A 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

The genotypic and phenotypic spectrum of PIGA deficiency

Inborn disorders of the malate aspartate shuttle

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases

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

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

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

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

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

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Treatment of ARS deficiencies with specific amino acids

The role of clinical response to treatment in determining pathogenicity of genomic variants

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

Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes

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