Kategorie:
PubID
Gen
MIM
26677512 Baker P II, Ayres L, Gaughan S, et al. Hereditary Fructose Intolerance. 2015 Dec 17. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK333439/
ALDOB
BCS1L
DGUOK
DLD
FARS2
GALT
GBA
GFM1
HMGCL
IARS
LARS
LIPA
MPV17
MRPS16
NBAS
20301473 Patterson M. Niemann-Pick Disease Type C. 2000 Jan 26 [Updated 2013 Jul 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1296/
NPC1
20301473 Patterson M. Niemann-Pick Disease Type C. 2000 Jan 26 [Updated 2013 Jul 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1296/
NPC2
POLG
SCO1
20301544 Wasserstein MP, Schuchman EH. Acid Sphingomyelinase Deficiency. 2006 Dec 7 [Updated 2015 Jun 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1370/
SMPD1
SUCLG1
TRMU
TSFM
TWNK
TYMP