Muscle involvement in Dent disease 2

Pediatric Nephrology

Volumn 29, Issue 11, 2014, Pages 2127-2132

  Park, Eujin ^a   Choi, Hyun Jin ^a   Lee, Jiwon M ^a   Ahn, Yo Han ^a   Kang, Hee Gyung ^a,b   Choi, Yoo Mee ^c   Park, Se Jin ^d   Cho, Hee Yeon ^e   Park, Yong Hoon ^f   Lee, Seung Joo ^g   Ha, Il Soo ^a,h   Cheong, Hae Il ^a,b,h  

^a Seoul National University Children's Hospital   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c Kyung Hee University Hospital   (South Korea)

^d Ajou University School of Medicine   (South Korea)

^e Samsung Medical Center   (South Korea)

^f Yeungnam University College of Medicine   (South Korea)

^g Ewha Womans University   (South Korea)

^h Seoul National University College of Medicine   (South Korea)

Author keywords

CLCN5 gene; Dent disease 1; Dent disease 2; Lowe syndrome; Muscle enzyme; OCRL gene

Indexed keywords

ASPARTATE AMINOTRANSFERASE; BIOLOGICAL MARKER; CHLORIDE CHANNEL; CLC-5 CHLORIDE CHANNEL; CREATINE KINASE; LACTATE DEHYDROGENASE; OCRL PROTEIN, HUMAN; PHOSPHATASE;

ADOLESCENT; CHILD; ENZYMOLOGY; FEMALE; GENETICS; GENOTYPE; HUMAN; LIVER; LOWE SYNDROME; MALE; METABOLISM; NEPHROLITHIASIS; PATHOLOGY; SKELETAL MUSCLE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ASPARTATE AMINOTRANSFERASES; BIOLOGICAL MARKERS; CHILD; CHLORIDE CHANNELS; CREATINE KINASE; FEMALE; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; L-LACTATE DEHYDROGENASE; LIVER; MALE; MUSCLE, SKELETAL; NEPHROLITHIASIS; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84930695338     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-014-2841-4     Document Type: Article

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