(Q28910388)

GOA release 2020-03-11

muscle atrophy

1 reference

Sylvia Stockler-Ipsiroglu

GOA release 2020-03-11

1 reference

1

object named as

Sylvia Stockler-Ipsiroglu

1 reference

7 March 2017

14

Klaas J. Wierenga

1 reference

7 March 2017

Delia Apatean

2

1 reference

7 March 2017

Roberta Battini

3

1 reference

7 March 2017

Suzanne DeBrosse

4

1 reference

7 March 2017

Kimberley Dessoffy

5

1 reference

7 March 2017

Simon Edvardson

6

1 reference

7 March 2017

Florian Eichler

7

1 reference

7 March 2017

Katherine Johnston

8

1 reference

7 March 2017

David M. Koeller

9

1 reference

7 March 2017

Sonia Nouioua

10

1 reference

7 March 2017

Meriem Tazir

11

1 reference

7 March 2017

Ashok Verma

12

1 reference

7 March 2017

Monica D. Dowling

13

1 reference

7 March 2017

Andrea M. Wierenga

15

1 reference

7 March 2017

Victor Zhang

16

1 reference

7 March 2017

Lee-Jun C. Wong

Molecular Genetics and Metabolism

17

1 reference

7 March 2017

1 December 2015

1 reference

7 March 2017

1 reference

7 March 2017

116

1 reference

7 March 2017

4

1 reference

7 March 2017

252–259

1 reference

7 March 2017

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Inhibition of creatine and phosphocreatine accumulation in skeletal muscle and heart

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Labile methyl balances for normal humans on various dietary regimens

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

HOMOCITRULLINE AND HOMOARGININE SYNTHESIS FROM LYSINE.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

L-homoarginine and cardiovascular disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

The synthesis of creatine by the brain of the intact rat.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.10.003