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Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 01/2010, Volume 5, Issue 1, pp. 133 - 141
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 32 - 32
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2018, Volume 103, Issue 4, pp. 579 - 591
p21-activated kinases (PAKs) are serine/threonine protein kinases acting as effectors of CDC42 and RAC, which are members of the RHO family of small GTPases.... 
INTELLECTUAL DISABILITY | CDC42 | MENTAL-RETARDATION | GENE | REGULATES SPINE MORPHOGENESIS | PATHWAY | PROTEIN-KINASE | GENETICS & HEREDITY | PHENOTYPES | CONFORMATION | REVEALS | Care and treatment | Genetic aspects | Research | Gene mutations | Mental illness | Protein kinases
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 894 - 903
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 6
Journal Article
Liver Transplantation, ISSN 1527-6465, 06/2019, Volume 25, Issue 6, pp. 889 - 900
Liver transplantation (LT) has been shown to be a feasible treatment in patients with severe forms of maple syrup urine disease (MSUD). Because of a sufficient... 
SURGERY | GASTROENTEROLOGY & HEPATOLOGY | CHILDREN | TRANSPLANTATION
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2018, Volume 41, Issue 2, pp. 169 - 180
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2018, Volume 20, Issue 2, pp. 259 - 268
Purpose: SLC39A8 deficiency is a severe inborn error of metabolism that is caused by impaired function of manganese metabolism in humans. Mutations in SLC39A8... 
Parkinsonism | Therapy | Congenital disorder of glycosylation | Manganese | congenital disorder of glycosylation | HOMEOSTASIS | TRANSPORTER | therapy | CITRATE | GENETICS & HEREDITY | CONGENITAL DISORDER | GLYCOSYLATION | MUTATIONS | manganese | BLOOD-BRAIN-BARRIER | Metabolism | Index Medicus
Journal Article
Kidney International, ISSN 0085-2538, 03/2011, Volume 79, Issue S120, pp. S7 - S13
Reabsorption of glucose in the proximal renal tubule involves the Na -coupled glucose cotransporter (SGLT) and the facilitative glucose transport (GLUT)... 
glucose transport | familial renal glucosuria | SLC5A2 |