Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Common congenital anomalies: Environmental causes and prevention with folic acid containing multivitamins.Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
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Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
description
article científic
@ca
article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 26 January 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Ophthalmic Manifestations and ...... s with Cobalamin C Deficiency.
@en
Ophthalmic Manifestations and ...... s with Cobalamin C Deficiency.
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type
label
Ophthalmic Manifestations and ...... s with Cobalamin C Deficiency.
@en
Ophthalmic Manifestations and ...... s with Cobalamin C Deficiency.
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prefLabel
Ophthalmic Manifestations and ...... s with Cobalamin C Deficiency.
@en
Ophthalmic Manifestations and ...... s with Cobalamin C Deficiency.
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P2093
P2860
P50
P1433
P1476
Ophthalmic Manifestations and ...... s with Cobalamin C Deficiency.
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P2093
Brian P Brooks
Charles P Venditti
Wadih M Zein
P2860
P304
P356
10.1016/J.OPHTHA.2015.10.041
P577
2016-01-26T00:00:00Z