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Cytochrome c oxidase deficiency
LE WE PMID CA
Cytochrome c oxidase deficiency14173Cytochrome c oxidase deficiency

11 beta HSD (BASKET)

17 alpha Hydroxylase

Acidosis (RTA1 distal)

Acidosis (RTA2 proximal)

AE1

Alkaptonuria

Aminoacidurias

Aniridia Wilms syndrome

Autosomal recessive rickets with craniostenosis and deafness

AVPR2

Blue diaper syndrome

Calcitriol resistance

Carboanhydrase II

COL4A3

COL4A4

COL4A5

COL4A6

CYP11B2 aldosterone synthase

Cystathioninuria

Cytochrome c oxidase deficiency

Dicarboxylic aminoaciduria

Epstein s syndrome

familial hypophosphatemic osteomalacia

Fructose 1 phosphate aldolase

Galactose 1 phosphate uridyl transferase

GALNT3

Gluco Glycinuria

Glucosuria with renal phosphate diabetes

H ATPase A4 subunit

H ATPase B1 subunit

Hartnup s syndrome

Hypercystinuria isolated

Hyperdibasic aminoaciduria I

Hyperhistidinuria

Hypomagnesiemia congenital primary

Hypophosphatemic nonrachitic bone disease

Iminoglycinuria

Jadassohn s linear sebaceous nevus

Jansen s disease

Kidney (CNS Finnish type)

Kidney (Collagenofibrotic nephropathy)

Kidney (Diffuse mesangial sclerosis)

Kidney (Fibronectin Glomerulopathy)

Kidney (Hematuria benign)

LAMB2 Laminin beta2

LMX1B

MERRF

MULIBREY dysplasia

NARP syndrome

NBC1

NCCT

Nipples supernumerary

PAT1

Perlman syndrome

Phosphatidylinositol bisphosphate phosphatase

Pierson Zenker syndrome

Proline (Hyperprolinemia)

Pseudotumoral calcinosis

Receptor (PTH)

ROMK

Schwachmann Bodian syndrome

Sclerema neonatorum

SLC3A1

SLC6A19

SLC7A9

Xanthinuria

2011  
1
Mechanism of cluster DNA damage repair in response to high-atomic number and energy particles radiation.
[21126526] Mutat Res 711(1-2): 87-99 (2011)

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