Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.

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Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

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2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

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Neuropsychological implication ...... ted through newborn screening.

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Neuropsychological implications of Cobalamin C

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Neuropsychological implication ...... ted through newborn screening.

@en

Neuropsychological implications of Cobalamin C

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Neuropsychological implication ...... ted through newborn screening.

@en

Neuropsychological implications of Cobalamin C

@nl

P1476

Neuropsychological implication ...... ted through newborn screening.

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P2093

Ashley M Whitaker

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Can H Ficicioglu

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Lauren S Krivitzky

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Nina Hattiangadi Thomas

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P2860

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

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

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

Cobalamin C defect: natural history, pathophysiology, and treatment.

Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

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

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

Cognitive and social profiles in two patients with cobalamin C disease.

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

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1-7

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scholarly article

P356

10.1080/21622965.2016.1270211

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P577

2017-01-10T00:00:00Z

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P698

28071971

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P921

neuropsychology