Metabolic cutis laxa syndromes.
Mohamed, Miski
Metabolic cutis laxa syndromes. [electronic resource] - Journal of inherited metabolic disease Aug 2011 - 907-16 p. digital
Publication Type: Journal Article; Review
1573-2665
10.1007/s10545-011-9305-9 doi
Carrier Proteins--genetics
Congenital Disorders of Glycosylation--classification
Cutis Laxa--diagnosis
Guanine Nucleotide Exchange Factors--deficiency
Humans
Menkes Kinky Hair Syndrome--diagnosis
Metabolic Networks and Pathways--genetics
Models, Biological
Ornithine-Oxo-Acid Transaminase--deficiency
Pyrroline Carboxylate Reductases--deficiency
Syndrome
delta-1-Pyrroline-5-Carboxylate Reductase
Metabolic cutis laxa syndromes. [electronic resource] - Journal of inherited metabolic disease Aug 2011 - 907-16 p. digital
Publication Type: Journal Article; Review
1573-2665
10.1007/s10545-011-9305-9 doi
Carrier Proteins--genetics
Congenital Disorders of Glycosylation--classification
Cutis Laxa--diagnosis
Guanine Nucleotide Exchange Factors--deficiency
Humans
Menkes Kinky Hair Syndrome--diagnosis
Metabolic Networks and Pathways--genetics
Models, Biological
Ornithine-Oxo-Acid Transaminase--deficiency
Pyrroline Carboxylate Reductases--deficiency
Syndrome
delta-1-Pyrroline-5-Carboxylate Reductase