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1-5 of 5 results for cerebral creatine deficiency

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Open accessResearch articleFirst published 2023

GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management

Majdah A. Almaghrabi, Osama Y. Muthaffar, Sereen A. Alahmadi [...]

Child Neurology Open

Open accessCase reportFirst published 2023

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog [...]

Journal of Investigative Medicine High Impact Case Reports

Free accessResearch articleFirst published November, 2008

Simultaneous determination of guanidinoacetate,creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry

R S Carling, S L Hogg, T C Wood [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted accessOtherFirst published July, 1996

Congenital Muscular Dystrophy Associated With Merosin Deficiency

Kathryn N. North, Linda A. Specht, Rajesh K. Sethi [...]

Journal of Child Neurology

Retricted accessOtherFirst published August, 2001

Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome

Melita Čačić, Ekkehard Wilichowski, Vlatka Mejaški-Bošnjak [...]

Journal of Child Neurology

Search results

Articles (5)

Journals (0)

1-5 of 5 results for cerebral creatine deficiency

Sort by:

Relevance

Select all

Sort by:

Relevance

Open accessResearch articleFirst published 2023

GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management

Majdah A. Almaghrabi, Osama Y. Muthaffar, Sereen A. Alahmadi [...]

Child Neurology Open

Open accessCase reportFirst published 2023

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog [...]

Journal of Investigative Medicine High Impact Case Reports

Free accessResearch articleFirst published November, 2008

Simultaneous determination of guanidinoacetate,creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry

R S Carling, S L Hogg, T C Wood [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted accessOtherFirst published July, 1996

Congenital Muscular Dystrophy Associated With Merosin Deficiency

Kathryn N. North, Linda A. Specht, Rajesh K. Sethi [...]

Journal of Child Neurology

Retricted accessOtherFirst published August, 2001

Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome

Melita Čačić, Ekkehard Wilichowski, Vlatka Mejaški-Bošnjak [...]

Journal of Child Neurology