%D8%B9%D9%88%D8%B2_%D8%A7%D9%84%D9%83%D8%A7%D8%B1%D9%86%D9%8A%D8%AA%D9%8A%D9%86_%D8%A7%D9%84%D8%A3%D8%B3%D8%A7%D8%B3%D9%8A_%D8%A7%D9%84%D8%AC%D9%87%D8%A7%D8%B2%D9%8AKarnitintransport%C3%B8rdefektSystemic_primary_carnitine_deficiencyCTDKarnitintransport%C3%B8rdefektPrim%C3%A4r_karnitinbristQ3358135%E5%8D%A1%E5%B0%BC%E4%B8%81%E7%BC%BA%E4%B9%8F%E7%97%87
about
sameAs
P2293
Systemic Primary Carnitine DeficiencyCarnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Systemic primary carnitine deficiency with hypoglycemic encephalopathyMaternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
P921
description
Krankheit
@de
amino acid metabolic disorder ...... cannot utilize fats for energy
@en
مرض يصيب الإنسان
@ar
name
CTD
@fo
Færøysk syke
@nb
Karnitintransportørdefekt
@da
Systemic primary carnitine deficiency
@en
déficit systémique en carnitine
@fr
primär karnitinbrist
@sv
عوز الكارنيتين الأساسي الجهازي
@ar
卡尼丁缺乏症
@zh
卡尼丁缺乏症
@zh-hans
卡尼丁缺乏症
@zh-hant
type
label
CTD
@fo
Færøysk syke
@nb
Karnitintransportørdefekt
@da
Systemic primary carnitine deficiency
@en
déficit systémique en carnitine
@fr
primär karnitinbrist
@sv
عوز الكارنيتين الأساسي الجهازي
@ar
卡尼丁缺乏症
@zh
卡尼丁缺乏症
@zh-hans
卡尼丁缺乏症
@zh-hant
altLabel
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
@en
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
@en
CDSP
@en
CTD
@da
CTD, SPCD
@en
CUD
@en
Carnitin Transporter Deficiency
@nb
Carnitine Deficiency, Primary
@en
Carnitine Deficiency, Systemic, Due to Defect 1N Renal Reabsorption of Carnitine
@en
Carnitine Transporter, Plasma-Membrane, Deficiency of
@en
prefLabel
CTD
@fo
Færøysk syke
@nb
Karnitintransportørdefekt
@da
Systemic primary carnitine deficiency
@en
déficit systémique en carnitine
@fr
primär karnitinbrist
@sv
عوز الكارنيتين الأساسي الجهازي
@ar
卡尼丁缺乏症
@zh
卡尼丁缺乏症
@zh-hans
卡尼丁缺乏症
@zh-hant
P279
P2888
P2892
P4229
P486
P6366
P646
P1748
P1995
P2293
P279
P2892
P4229
P4839
Entity["Disease", "ICDNine277.81"]
P486
P492
P5270
MONDO:0008919
P6366
2781073873
P646
P673
P699
DOID:14365