Inventaire - your friends and communities are your best library

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

author

Clara van Karnebeek

published in: Molecular Genetics and Metabolism

date of publication: 2011-11-30

main subject: disability, intellectual disability, disability affecting intellectual abilities

Cites articles 132

Date

Title

Authors

2011-05-18

Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up
2011-05-17

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

David R Nascene, Julie Eisengart, Jakub Tolar
2011-02-09

Disorders of creatine transport and metabolism.

Nicola Longo
2011-02-10

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond
2011-06-12

The neurology of biotinidase deficiency
2011-02-10

Inborn errors of cobalamin absorption and metabolism
2011-04-01

Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents' perspective.
2011-02-03

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects
2011-08-11

Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience

George Mazariegos, Jerry Vockley
2011-05-24

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Clara van Karnebeek, Mary B Connolly, Saadet Mercimek-Mahmutoglu
2010-11

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Louanne Hudgins
2010-01-05

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Angela Arias, Antonia Ribes, Jaume Campistol, Rafael Artuch, Begoña Merinero
2010-02-02

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Hans Scheffer, Todd Arthur, Diana Ballhausen, Rob Forsyth, Christian G E L de Goede, Katherine L Lachlan
2010-07-01

Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy

Nathalie Cartier
2010-01-01

Future treatment strategies in phenylketonuria
2010-01-01

Transplant outcomes in mucopolysaccharidoses
2010-04-12

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

Joy Yaplito-Lee
2010-09-15

L-arginine is effective in stroke-like episodes of MELAS associated with the G13513A mutation
2010-08-26

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

Graham Sinclair, Sylvia Stockler-Ipsiroglu, Saadet Mercimek-Mahmutoglu
2010-05-01

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder

Chong Kun Cheon
2010-02-15

The lure of treatment: expanded newborn screening and the curious case of histidinemia
2010-04-01

PRPS1 mutations: four distinct syndromes and potential treatment

Hans Van Bokhoven, John Christodoulou
2010-07-07

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

Ann Saada
2010-01-29

Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects
2010-07-29

Cerebral folate deficiency.
2010-04-01

Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid

Olivier Bonnot, Matthew J. Fraidakis, Frédéric Sedel
2010-02-24

Citrin deficiency and current treatment concepts
2010-01-01

Coenzyme Q and mitochondrial disease
2010-05-21

Isolated remethylation disorders: do our treatments benefit patients?

Hélène Ogier de Baulny
2010-07-25

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

Valeria Tiranti, Massimo Zeviani, Costanza Lamperti
2010-11-01

Use of guidelines improves the neurological outcome in glutaric aciduria type I.
2010-02-01

Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders

Jakub Tolar, Jaap J. Boelens, Robert F Wynn

Article - wd:Q37972714

Welcome to Inventaire

the library of your friends and communities

learn more