Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	6103091	Complement deficiency and nephritis. A report of a family. A family is described in which three chil	756 Bytes	2015-12-04	15	0	-
PubMed	8434621	Familial Mediterranean fever in the colchicine era: the fate of one family. In order to demonstrate	554 Bytes	2015-03-12	14	1	-
PubMed	1684088	Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. F	2.05 KB	2017-09-11	17	1	-
PubMed	8466512	A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Palmitoyl-C	603 Bytes	2015-03-12	13	0	-
PubMed	2008213	Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Glucose/galacto	1.41 KB	2015-11-25	19	8	-
PubMed	9709714	Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-c	1.15 KB	2015-03-12	31	0	-
PubMed	1301189	A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onse	1.71 KB	2015-11-22	16	0	-
PubMed	9603435	W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A	1.9 KB	2015-11-27	34	0	-
PubMed	6783144	Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and	490 Bytes	2015-12-06	15	1	-
PubMed	1346773	The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another clo	825 Bytes	2015-11-18	18	1	-