| | | | | | | | |
Chowrimootoo GFE | et al. | Caeruloplasmin isoforms in Wilsons disease in neonates | Arch Dis Child Fetal Neonatal Ed | | 79 | 0 | F198-F201 | 1998 |
Zuo L, | et al. | Historical role of alpha-1-antitrypsin deficiency in respiratory and hepatic complications | Gene | | 589 | 2 | 118-122 | 2016 |
Jebbink J, | et al. | Molecular genetics of preeclampsia and HELLP syndrome - a review | Biochim Biophys Acta | | 1822 | 12 | 1960-1669 | 2012 |
Seidner G | et al. | GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier | Nat Genet | | 18 | 0 | 188-191 | 1998 |
Beck M | Sieber N, Goebel HH | Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff | Eur J Pediatr | | 0 | 0 | 866-867 | 1997 |
Guneral F | Bachmann C | Age-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric Population | Clin Chem | | 40 | 6 | 862-868 | 1994 |
Maher F | et al. | Glucose transporter proteins in brain | FASEB J | | 8 | 0 | 1003-1011 | 1994 |
De Vivo DC | et al. | Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay | N Engl J Med | | 325 | 0 | 703-709 | 1991 |