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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.21-48

2017

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Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features

Annals of neurology, 2019-11, Vol.86 (5), p.695-703

2019

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Human mutation, 2020-03, Vol.41 (3), p.641-654

2020

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Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

Molecular genetics and metabolism, 2013-11, Vol.110 (3), p.241-247

2013

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Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.331-340

2016

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Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt

Journal of inherited metabolic disease, 2017, Vol.40 (1), p.159-160

2017

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Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.365-366

2015

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Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2508-2511

2011

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Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.46-46

2013

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Rapid resolution of infantile lipemia retinalis following exchange transfusion

Journal of inherited metabolic disease, 2016-11, Vol.39 (6), p.889-890

2016

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The Abyss

The New England journal of medicine, 2016-08, Vol.375 (8), p.713-715

Weisfeld-Adams, James D

2016

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Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

Molecular genetics and metabolism, 2015-04, Vol.114 (4), p.537-546

2015

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

Epilepsy research, 2017-01, Vol.129, p.17-25

2017

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Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

Brain (London, England : 1878), 2015-03, Vol.138 (Pt 3), p.517-539

2015

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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

Human genetics, 2021-10, Vol.140 (10), p.1471-1485

2021

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Vincristine sulfate as a possible cause of optic neuropathy

Pediatric Blood & Cancer, 2007-02, Vol.48 (2), p.238-240

2007

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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6

Mitochondrion, 2019-01, Vol.44, p.58-64

2019

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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

Molecular genetics and metabolism, 2010-02, Vol.99 (2), p.116-123

2010

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Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children’s Cancer Group high-grade glioma study CCG-945

Journal of neuro-oncology, 2015-02, Vol.121 (3), p.573-581

2015

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A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

Npj genomic medicine, 2016-03, Vol.1 (1), p.16003-16003, Article 16003

2016

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Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.243-253

2019

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Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome

British journal of ophthalmology, 2016-05, Vol.100 (5), p.704-707

2016

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Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1

European journal of medical genetics, 2012-12, Vol.55 (12), p.732-736

2012

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Complex Syndactyly and Atypical Ectrodactyly in a Child with a Mosaic Karyotype Involving Trisomy 21 and Partial Duplication of Chromosome 21

Cancer genetics, 2015-06, Vol.208 (6), p.364-364

2015

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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt

Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Rapid resolution of infantile lipemia retinalis following exchange transfusion

The Abyss

Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

Vincristine sulfate as a possible cause of optic neuropathy

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children’s Cancer Group high-grade glioma study CCG-945

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Complex Syndactyly and Atypical Ectrodactyly in a Child with a Mosaic Karyotype Involving Trisomy 21 and Partial Duplication of Chromosome 21

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