albinismus
dědičné nemoci očí
genetická onemocnění kůže
hypopigmentace
vrozené poruchy metabolismu aminokyselin
albinismus generalizovaný
albinismus oční
Chediakův-Higashiho syndrom
piebaldismus
Chediakův-Higashiho syndrom
Albinism
MESH
(9) - MESH

fenylketonurie
BH4 Deficiency
Biopterin Deficiency
Deficiency Disease, Dihydropteridine Reductase
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency Disease, Phenylalanine Hydroxylase, Severe
deficit dihydropteridin reduktázy
deficit fenylalaninhydroxylázy
deficit tetrahydrobiopterinu
DHPR Deficiency
Dihydropteridine Reductase Deficiency
Dihydropteridine Reductase Deficiency Disease
fenylketonurie, typ I
fenylketonurie, typ II
Folling Disease
Folling's Disease
Föllingova nemoc
HPABH4C
hyperfenylalaninemie
hyperfenylalaninémie
Hyperphenylalaninaemia
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, BH4-Deficient, C
Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
nedostatek dihydropteridin reduktázy
nedostatek fenylalaninhydroxylázy
nedostatek tetrahydrobiopterinu
non-fenylketonurická hyperfenylalaninemie
non-fenylketonurická hyperfenylalaninémie
Non-Phenylketonuric Hyperphenylalaninemia
oligophrenia fenylpyruvica
Oligophrenia Phenylpyruvica
PAH Deficiency
Phenylalanine Hydroxylase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylalanine Hydroxylase Deficiency Disease, Severe
Phenylketonuria
Phenylketonuria I
Phenylketonuria II
Phenylketonuria Type 2
Phenylketonuria, Atypical
Phenylketonuria, Classical
PKU, Atypical
QDPR Deficiency
Quinoid Dihydropteridine Reductase Deficiency
Tetrahydrobiopterin Deficiency
metabolické nemoci mozku vrozené
vrozené poruchy metabolismu aminokyselin
fenylketonurie v těhotenství
dihydropteridinreduktasa
fenylalaninhydroxylasa
Phenylketonurias
MESH
(5) - MESH

hyperlysinemie
Alpha-Aminoadipic Semialdehyde Deficiency Disease
aminoadipát-semialdehyddehydrogenasa - nedostatek
Deficiency Disease, Alpha-Aminoadipic Semialdehyde
Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase
Deficiency Disease, Saccharopine Dehydrogenase
Familial Hyperlysinemia
familiární hyperlysinemie
Hyperlysinemia
Hyperlysinemia, Familial
Hyperlysinemia, Periodic
hyperlysinémie
Hyperlysinuria With Hyperammonemia
hyperlysinurie s hyperamonemií
hyperlyzinemie
L-Lysine:NAD-Oxido-Reductase Deficiency
lysinalfaketoglutarátreduktasa - nedostatek
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine:Alpha-Ketoglutarate Reductase Deficiency
nedostatek aminoadipát-semialdehyddehydrogenázy
nedostatek lysinalfaketoglutarátreduktázy
nedostatek sacharopindehydrogenázy
periodická hyperlysinemie
Saccharopine Dehydrogenase Deficiency Disease
sacharopindehydrogenasa - nedostatek
metabolické nemoci mozku vrozené
vrozené poruchy metabolismu aminokyselin
sacharopin dehydrogenasy
Hyperlysinemias
MESH
(3) - MESH

mnohočetný deficit acyl-CoA dehydrogenáz
acyl-CoA-dehydrogenasa - mnohočetná deficience
acyl-CoA-dehydrogenasa - mnohočetný deficit
Electron Transfer Flavoprotein Alpha Subunit Deficiency
Electron Transfer Flavoprotein Beta Subunit Deficiency
Electron Transfer Flavoprotein Deficiency
Electron Transfer Flavoprotein Dehydrogenase Deficiency
ETFA Deficiency
ETFB Deficiency
ETFDH Deficiency
Ethylmalonic-Adipic Aciduria
Ethylmalonic-Adipicaciduria
Glutaric Acidemia Type II
Glutaric Acidemia, Type 2
Glutaric Aciduria II
Glutaric Aciduria IIA
Glutaric Aciduria IIB
Glutaric Aciduria IIC
Glutaric Aciduria Type 2
Glutaric Aciduria Type II
Glutaric Aciduria, Type 2
glutarová acidurie II. typu
glutarová acidurie IIA
glutarová acidurie IIB
glutarová acidurie IIC
glutarová acidurie typu II
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
mnohočetný deficit acyl-CoA dehydrogenázy
Multiple Acyl-CoA Dehydrogenase Deficiency
Multiple FAD Dehydrogenase Deficiency
mitochondriální nemoci
vrozené poruchy metabolismu aminokyselin
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
MESH
(2) - MESH

neketotická hyperglycinemie
Glycine Encephalopathy
glycinová encefalopatie
Hyperglycinemia, Nonketotic, Type I
Hyperglycinemia, Nonketotic, Type II
Hyperglycinemia, Nonketotic, Type III
hyperglycinémie neketotická
neketotická hyperglycinemie typu I
neketotická hyperglycinemie typu II
neketotická hyperglycinemie typu III
neketotická hyperglycinemie, typ I
neketotická hyperglycinemie, typ II
neketotická hyperglycinemie, typ III
Non-ketotic Hyperglycinemia
Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia, Type I
Nonketotic Hyperglycinemia, Type II
Nonketotic Hyperglycinemia, Type III
nonketotická hyperglycinemie
nonketotická hyperglycinemie typu I
nonketotická hyperglycinemie typu II
nonketotická hyperglycinemie typu III
Type I Nonketotic Hyperglycinemia
Type II Nonketotic Hyperglycinemia
Type III Nonketotic Hyperglycinemia
metabolické nemoci mozku vrozené
vrozené poruchy metabolismu aminokyselin
Hyperglycinemia, Nonketotic
MESH
(2) - MESH