Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2053-8871

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency ; volume:5 ; number:1 ; day:20 ; month:10 ; year:2018 ; pages:1-3 ; date:12.2018
Cerebellum & ataxias ; 5, Heft 1 (20.10.2018), 1-3, 12.2018

Creator: Fan, Judy

Contributor: Fogel, Brent L.
SpringerLink (Online service)

DOI: 10.1186/s40673-018-0091-0

URN: urn:nbn:de:101:1-2018112113212224456338

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:58 AM CEST

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Fan, Judy
Fogel, Brent L.
SpringerLink (Online service)

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Premature farrowing and stillbirths in two organic sow farms due to riboflavin deficiency

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Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency

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Other Objects (12)

Riboflavin 1 transporter deficiency : : novel SLC52A1 variants and expansion of the phenotypic spectrum

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

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Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Evaluation of Riboflavin Transporters as Targets for Drug Delivery and Theranostics

RibM from Streptomyces davawensis is a riboflavin/roseoflavin transporter and may be useful for the optimization of riboflavin production strains

Premature farrowing and stillbirths in two organic sow farms due to riboflavin deficiency

Hypomagnesaemia induced recurrent cerebellar ataxia: an interesting case with successful management

Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)

Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error

Thiamine transporter-2 deficiency: outcome and treatment monitoring

Riboflavin 1 transporter deficiency : : novel SLC52A1 variants and expansion of the phenotypic spectrum

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Evaluation of Riboflavin Transporters as Targets for Drug Delivery and Theranostics

RibM from Streptomyces davawensis is a riboflavin/roseoflavin transporter and may be useful for the optimization of riboflavin production strains

Premature farrowing and stillbirths in two organic sow farms due to riboflavin deficiency

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Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)

Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error

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Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Evaluation of Riboflavin Transporters as Targets for Drug Delivery and Theranostics

RibM from Streptomyces davawensis is a riboflavin/roseoflavin transporter and may be useful for the optimization of riboflavin production strains

Premature farrowing and stillbirths in two organic sow farms due to riboflavin deficiency

Hypomagnesaemia induced recurrent cerebellar ataxia: an interesting case with successful management

Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)

Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error

Thiamine transporter-2 deficiency: outcome and treatment monitoring

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