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Perlman syndrome
LE WE PMID CA
Perlman syndrome13375Perlman syndrome

11 beta HSD (BASKET)

17 alpha Hydroxylase

ABCC8 SUR1

Acidosis (RTA1 distal)

Acidosis (RTA2 proximal)

AE1

Alkaptonuria

Aminoacidurias

Aniridia Wilms syndrome

Autosomal recessive rickets with craniostenosis and deafness

AVPR2

Beckwith Wiedemann syndrome

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

Glucokinase

Glucose (Hypoglycemia)

Glucosuria with renal phosphate diabetes

Glutamate dehydrogenase

H ATPase A4 subunit

H ATPase B1 subunit

Hartnup s syndrome

Hypercystinuria isolated

Hyperdibasic aminoaciduria I

Hyperhistidinuria

Hyperinsulinism in infancy

Hypomagnesiemia congenital primary

Hypophosphatemic nonrachitic bone disease

Iminoglycinuria

Jadassohn s linear sebaceous nevus

Jansen s disease

KCNJ11 Kir6 2

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 (Insulin)

Receptor (PTH)

ROMK

Schwachmann Bodian syndrome

Sclerema neonatorum

Short chain L 3 hydroxyacyl CoA dehydrogenase

SLC3A1

SLC6A19

SLC7A9

Sotos s syndrome

Xanthinuria

2006  
1
Molecular mechanisms of neonatal hyperinsulinism.
[17003566] Horm Res 66(6): 289-96 (2006)
2011  
2
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)

Downloaded from http://www.kidney.de - The Database of Free Medical Reviews - The Metatextbook of Medicine - Ossip Groth

All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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