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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

American journal of human genetics, 2014-02, Vol.94 (2), p.209-222

2014

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ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Brain (London, England : 1878), 2014-11, Vol.137 (Pt 11), p.2903-2908

2014

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Treatable lysosomal storage diseases in the advent of disease‐specific therapy

Internal medicine journal, 2020-11, Vol.50 (S4), p.5-27

2020

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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

The Journal of biological chemistry, 2016-09, Vol.291 (39), p.20563-20573

2016

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Mouse models for methylmalonic aciduria

PloS one, 2012-07, Vol.7 (7), p.e40609-e40609

2012

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Expanded newborn screening: outcome in screened and unscreened patients at age 6 years

Pediatrics (Evanston), 2009-08, Vol.124 (2), p.e241-e248

2009

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Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome

Seminars in pediatric neurology, 2018-07, Vol.26, p.2-9

2018

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human mutation, 2016-07, Vol.37 (7), p.653-660

2016

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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

International journal of molecular sciences, 2022-01, Vol.23 (2), p.986

2022

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Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus

PloS one, 2012-09, Vol.7 (9), p.e44974-e44974

2012

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Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.321-332

2015

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.459-466

2015

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Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

Developmental medicine and child neurology, 2014-05, Vol.56 (5), p.498-502

2014

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Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

Human gene therapy, 2014-06, Vol.25 (6), p.529-538

2014

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Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

Journal of clinical neuroscience, 2014-10, Vol.21 (10), p.1815-1817

2014

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POLG mutations and Alpers syndrome

Annals of neurology, 2005-06, Vol.57 (6), p.921-923

2005

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Treatment of a methylmalonyl-CoA mutase stopcodon mutation

Biochemical and biophysical research communications, 2012-11, Vol.427 (4), p.753-757

2012

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Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model

Biochemical and biophysical research communications, 2012-10, Vol.427 (1), p.30-35

2012

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Stop codon read-through of a Methylmalonic aciduria mutation

Molecular genetics and metabolism, 2009-08, Vol.97 (4), p.244-249

2009

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Trophic level and overlap of sea lions (Zalophus californianus) in the Gulf of California, Mexico

Marine mammal science, 2008-07, Vol.24 (3), p.554-576

2008

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Alpers Syndrome With Mutations in POLG : Clinical and Investigative Features

Pediatric neurology, 2011-11, Vol.45 (5), p.311-318

2011

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Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study

Journal of inborn errors of metabolism and screening, 2020, Vol.8

2020

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Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy

International journal of cardiology, 1999-12, Vol.71 (3), p.243-250

1999

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Cognitive and Behavioral Profiles of Children with Aspartylglucosaminuria: A Case Series

Journal of pediatric neurology, 2022-06, Vol.20 (3), p.198-201

2022

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Treatable lysosomal storage diseases in the advent of disease‐specific therapy

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

Mouse models for methylmalonic aciduria

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years

Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

POLG mutations and Alpers syndrome

Treatment of a methylmalonyl-CoA mutase stopcodon mutation

Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model

Stop codon read-through of a Methylmalonic aciduria mutation

Trophic level and overlap of sea lions (Zalophus californianus) in the Gulf of California, Mexico

Alpers Syndrome With Mutations in POLG : Clinical and Investigative Features

Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study

Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Cognitive and Behavioral Profiles of Children with Aspartylglucosaminuria: A Case Series

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