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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

American journal of human genetics, 2013-09, Vol.93 (3), p.506-514

2013

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Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?

The Journal of pediatrics, 2015-06, Vol.166 (6), p.1346-1350

2015

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Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Ophthalmology (Rochester, Minn.), 2016-03, Vol.123 (3), p.571-582

2016

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Leucine and arginine regulate trophoblast motility through mTOR-dependent and independent pathways in the preimplantation mouse embryo

Developmental biology, 2012-01, Vol.361 (2), p.286-300

2012

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Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Proceedings of the National Academy of Sciences - PNAS, 2013-08, Vol.110 (33), p.13552-13557

2013

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Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation

Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101089, Article 101089

2024

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Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association

Cancer research (Chicago, Ill.), 2009-09, Vol.69 (18), p.7393-7401

2009

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Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia

Molecular therapy. Methods & clinical development, 2023-09, Vol.30, p.181-190

2023

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Neurocognitive phenotype of isolated methylmalonic acidemia

Pediatrics (Evanston), 2012-06, Vol.129 (6), p.e1541-e1551

2012

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Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9

Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.61-72

2022

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High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

JIMD reports, 2020-01, Vol.51 (1), p.17-24

2020

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Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1621-n/a

2021

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A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

Genetics in medicine, 2016-04, Vol.18 (4), p.386-395

2016

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The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

Human molecular genetics, 2020-08, Vol.29 (13), p.2109-2123

2020

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Chronic kidney disease in propionic acidemia

Genetics in medicine, 2019-12, Vol.21 (12), p.2830-2835

2019

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Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.554-572

2023

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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

Brain (London, England : 1878), 2022-07, Vol.145 (7), p.2602-2616

2022

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Severity modeling of propionic acidemia using clinical and laboratory biomarkers

Genetics in medicine, 2021-08, Vol.23 (8), p.1534-1542

2021

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A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

Genetics in medicine, 2016-04, Vol.18 (4), p.396-404

2016

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Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant

Differentiation (London), 2023-05, Vol.131, p.74-81

2023

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Functional morphology of Richardson's ground squirrel, Spermophilus richardsonii, alarm calls: the meaning of chirps, whistles and chucks

Animal behaviour, 2005-10, Vol.70 (4), p.937-944

2005

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Renal growth in isolated methylmalonic acidemia

Genetics in medicine, 2013-12, Vol.15 (12), p.990-996

2013

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Cloning and Functional Expression of a Human Na+and Cl−-dependent Neutral and Cationic Amino Acid Transporter B0

The Journal of biological chemistry, 1999-08, Vol.274 (34), p.23740-23745

1999

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Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia

Human gene therapy, 2016-05, Vol.27 (5), p.345-353

2016

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Nature genetics, 2011-09, Vol.43 (9), p.883-886

2011

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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Leucine and arginine regulate trophoblast motility through mTOR-dependent and independent pathways in the preimplantation mouse embryo

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation

Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association

Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia

Neurocognitive phenotype of isolated methylmalonic acidemia

Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

Chronic kidney disease in propionic acidemia

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

Severity modeling of propionic acidemia using clinical and laboratory biomarkers

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant

Functional morphology of Richardson's ground squirrel, Spermophilus richardsonii, alarm calls: the meaning of chirps, whistles and chucks

Renal growth in isolated methylmalonic acidemia

Cloning and Functional Expression of a Human Na+and Cl−-dependent Neutral and Cationic Amino Acid Transporter B0

Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

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