Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance (Q38368030)

2 September 2017

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title

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

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2 September 2017

clinical surveillance

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based on heuristic

inferred from title

author name string

James D Weisfeld-Adams

1

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2 September 2017

Emily A McCourt

2

1 reference

2 September 2017

George A Diaz

3

1 reference

2 September 2017

Scott C Oliver

4

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2 September 2017

19 February 2015

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Molecular Genetics and Metabolism

2 September 2017

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2 September 2017

114

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2 September 2017

537-546

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2 September 2017

4

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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

2 September 2017

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Decyanation of vitamin B12 by a trafficking chaperone

7 January 2021

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General health-related quality of life in preschool children with strabismus or amblyopia

7 January 2021

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Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

7 January 2021

1 reference

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Late-onset cobalamin-C disorder: a challenging diagnosis.

7 January 2021

1 reference

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

7 January 2021

1 reference

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Clinical presentation and outcome in a series of 88 patients with the cblC defect.

7 January 2021

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Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy

7 January 2021

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Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy

7 January 2021

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Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

7 January 2021

1 reference

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The natural history of retinal degeneration in association with cobalamin C (cbl C) disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.01.012

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

7 January 2021

1 reference

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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

7 January 2021

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Epileptiform ocular movements with methylmalonic aciduria and homocystinuria

7 January 2021

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Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

7 January 2021

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Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

7 January 2021

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Cobalamin C defect associated with hemolytic-uremic syndrome

7 January 2021

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Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria

7 January 2021

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A congenital anomaly of vitamin B12 metabolism: a study of three cases

7 January 2021

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Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family

7 January 2021

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Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period

7 January 2021

1 reference

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An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury

7 January 2021

1 reference

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Assessment of visual function in children with methylmalonic aciduria and homocystinuria.

7 January 2021

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Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria

7 January 2021

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Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

7 January 2021

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Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.01.012

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.01.012

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.01.012

Cobalamin C deficiency complicated by an atypical glomerulopathy

7 January 2021

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Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease

7 January 2021

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The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.01.012

Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment

7 January 2021

1 reference

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Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

7 January 2021

1 reference

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CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency

7 January 2021

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A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.

7 January 2021

1 reference

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Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency

7 January 2021

1 reference

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Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

7 January 2021

1 reference

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Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

7 January 2021

1 reference

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Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

7 January 2021

1 reference

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A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.

7 January 2021

1 reference

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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

7 January 2021

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Macular colobomas in Leber's congenital amaurosis

7 January 2021

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Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria

7 January 2021

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Prenatal and postnatal treatment in cobalamin C defect.

7 January 2021

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Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

7 January 2021

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Optic neuropathy in methylmalonic acidemia: the role of neuroprotection

7 January 2021

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Late onset optic neuropathy in methylmalonic and propionic acidemia

7 January 2021

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Disturbed visual system function in methionine synthase deficiency

7 January 2021

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Remethylation defects: guidelines for clinical diagnosis and treatment

7 January 2021

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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

7 January 2021

1 reference

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Short-term inter-visit variability of erg amplitudes in normal subjects and patients with retinitis pigmentosa.

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Ultrahigh-resolution ophthalmic optical coherence tomography

7 January 2021

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Longitudinal reproducibility of optical coherence tomography measurements in children

7 January 2021

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Retinopathy in inherited Transcobalamin II deficiency.

7 January 2021

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An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

7 January 2021

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High exogenous homocysteine modifies eye development in early chick embryos

7 January 2021

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Moderate hyperhomocysteinemia and early-onset central retinal vein occlusion.

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The association between serum homocysteine levels and retinopathy of prematurity.

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Elevated serum homocysteine, low serum vitamin B12, folate, and age-related macular degeneration: the Blue Mountains Eye Study.

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Glutathione metabolism in cobalamin deficiency type C (cblC).

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Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.

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MRI and 1H-MRS findings in early-onset cobalamin C/D defect.

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Homocystinuria with methylmalonic aciduria: Two cases in a sibship

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The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

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Gene identification for the cblD defect of vitamin B12 metabolism

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Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

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Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism

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Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

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Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2015.01.012

1 reference

2 September 2017

1 reference