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Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

Journal of human genetics, 2021-07, Vol.66 (7), p.717-724

2021

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Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter

Frontiers in genetics, 2022-06, Vol.13

2022

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Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options

JIMD reports, 2024-03, Vol.65 (2), p.102-109

2024

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UPLC-MS/MS analysis of urinary oligosaccharides for the diagnosis of mucopolysaccharidosis and glycoproteinosis

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107883, Article 107883

2024

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Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC , LAMC2 , ITGB4 and COL7A1

Frontiers in genetics, 2022-04, Vol.13, p.847150-847150

2022

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Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

JIMD reports, 2023-09, Vol.64 (5), p.367-374

2023

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Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100747, Article 100747

2021

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P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

Genetics in Medicine Open, 2023, Vol.1 (1), p.100388, Article 100388

2023

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Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report

JIMD reports, 2020-11, Vol.56 (1), p.40-45

2020

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Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I

Clinical chemistry (Baltimore, Md.), 2023-04, Vol.69 (4), p.431-432

2023

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Propionyl-CoA carboxylase – A review

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.145-152

2017

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NOVEL VARIANTS IN A PATIENT WITH EPILEPSY AND PROFOUND DEVELOPMENTAL DISABILITIES

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.305

2022

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NOVEL LIAS VARIANTS IN A PATIENT WITH EPILEPSY AND PROFOUND DEVELOPMENTAL DISABILITIES

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.305-305

2022

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Congenital Disorder of Glycosylation in a Child with Macrosomia

Clinical chemistry (Baltimore, Md.), 2023-12, Vol.69 (12), p.1432-1434

2023

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Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2)

2024

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Single vs. dual transgene gene therapy for multiple sulfatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107996, Article 107996

2024

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BIOCHEMICAL CHARACTERIZATION OF THE PATIENTS WITH DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107503, Article 107503

2023

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D-Mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)

Molecular genetics and metabolism, 2024-04, Vol.141 (4)

2024

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A 3-Year-Old Girl with Acute Liver Failure and Status Epilepticus

Clinical chemistry (Baltimore, Md.), 2022-11, Vol.68 (11), p.1471-1474

2022

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Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency in vitro

Molecular genetics and metabolism, 2024-02, Vol.141 (2)

2024

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Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107788, Article 107788

2024

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Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis

Clinical chemistry (Baltimore, Md.), 2024-04

2024

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2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor

Molecular genetics and metabolism, 2023-04, Vol.138 (4), p.107549-107549, Article 107549

2023

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Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder

Clinical chemistry (Baltimore, Md.), 2023-06, Vol.69 (6), p.661-664

2023

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Novel LIAS variants in a patient with epilepsy and profound developmental disabilities

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107373-107373, Article 107373

2023

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Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter

Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options

UPLC-MS/MS analysis of urinary oligosaccharides for the diagnosis of mucopolysaccharidosis and glycoproteinosis

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC , LAMC2 , ITGB4 and COL7A1

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report

Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I

Propionyl-CoA carboxylase – A review

NOVEL VARIANTS IN A PATIENT WITH EPILEPSY AND PROFOUND DEVELOPMENTAL DISABILITIES

NOVEL LIAS VARIANTS IN A PATIENT WITH EPILEPSY AND PROFOUND DEVELOPMENTAL DISABILITIES

Congenital Disorder of Glycosylation in a Child with Macrosomia

Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency

Single vs. dual transgene gene therapy for multiple sulfatase deficiency

BIOCHEMICAL CHARACTERIZATION OF THE PATIENTS WITH DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

D-Mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)

A 3-Year-Old Girl with Acute Liver Failure and Status Epilepticus

Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency in vitro

Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency

Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis

2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor

Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder

Novel LIAS variants in a patient with epilepsy and profound developmental disabilities

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