Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

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High incidence of low vitamin B12 levels in Estonian newborns.Clinical genetics and genomic medicine in Qatar

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Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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name

Newborn screening for remethyl ...... ohorts from Qatar and Germany.

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Newborn screening for remethyl ...... ohorts from Qatar and Germany.

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Newborn screening for remethyl ...... ohorts from Qatar and Germany.

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Newborn screening for remethyl ...... ohorts from Qatar and Germany.

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Newborn screening for remethyl ...... ohorts from Qatar and Germany.

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Newborn screening for remethyl ...... ohorts from Qatar and Germany.

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P1476

Newborn screening for remethyl ...... ohorts from Qatar and Germany.

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Georg F Hoffmann

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Ghassan Abdoh

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Gwendolyn Gramer

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Hilal Al Rifai

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Junmin Fang-Hoffmann

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Jürgen G Okun

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Laila Mahmoud

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Noora Shahbeck

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Rehab Ali

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Tawfeg Ben-Omran

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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

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

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Acquired and inherited disorders of cobalamin and folate in children.

Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

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

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s12519-017-0003-z

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136-143

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scholarly article

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10.1007/S12519-017-0003-Z

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Junmin Fang-Hoffmann

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2017-01-19T00:00:00Z

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28101774

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P921

vitamin B12 deficiency

Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

about

P2860

P2860

Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921