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Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease

Brazilian Journal of Nephrology, 2018-04, Vol.40 (2), p.198-200

2018

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A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus

Pediatric nephrology (Berlin, West), 2008-04, Vol.23 (4), p.663-665

2008

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Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension

Rheumatic & musculoskeletal diseases open, 2021-09, Vol.7 (3), p.e001714

2021

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Features of Autosomal Recessive Alport Syndrome: A Systematic Review

Journal of clinical medicine, 2019-02, Vol.8 (2), p.178

2019

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Hepatorenal fibrocystic diseases in children

Pediatric nephrology (Berlin, West), 2016-01, Vol.31 (1), p.113-119

2016

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Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Jornal Brasileiro de nefrologia, 2020-10, Vol.42 (4), p.494-497

2020

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Acute Kidney Injury in Pediatric Cancer Patients

The Journal of pediatrics, 2019-05, Vol.208, p.243-250.e3

2019

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The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε

Journal of the American Society of Nephrology, 2017-10, Vol.28 (10), p.3066-3075

2017

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Dent-2 Disease: A Mild Variant of Lowe Syndrome

The Journal of pediatrics, 2009-07, Vol.155 (1), p.94-99

2009

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Early recurrent nephrotic syndrome after renal transplantation in children with focal segmental glomerulosclerosis

Nephrology, dialysis, transplantation, 2000-01, Vol.15 (1), p.78-81

2000

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Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Brazilian Journal of Nephrology, 2020-12, Vol.42 (4), p.494-497

2020

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Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period

JBMR plus, 2024, Vol.8 (1), p.ziad001-ziad001

2024

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Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Brazilian Journal of Nephrology, 2020-10

2020

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Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney

Pediatric nephrology (Berlin, West), 2015-09, Vol.30 (9), p.1451-1458

2015

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Clinical Features of Anti-Factor H Autoantibody-Associated Hemolytic Uremic Syndrome

Journal of the American Society of Nephrology, 2010-12, Vol.21 (12), p.2180-2187

2010

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Higher Incidence of BK Virus Nephropathy in Pediatric Kidney Allograft Recipients with Alport Syndrome

Journal of clinical medicine, 2019-04, Vol.8 (4), p.491

2019

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A familial case of Blau syndrome caused by a novel NOD2 genetic mutation

Korean journal of pediatrics, 2016-11, Vol.59 (Suppl 1), p.S5

2016

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Translational read-through of a nonsense mutation causing Bartter syndrome

Journal of Korean Medical Science, 2013, 28(6), 177, pp.821-826

2013

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Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome

Korean journal of pediatrics, 2014-02, Vol.57 (2), p.96

2014

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Clinical features of anti-FH auto antibodies-associated HUS: A typical onset but an atypical outcome

Molecular immunology, 2010-08, Vol.47 (13), p.2214-2214

2010

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Can liver–kidney transplantation cure aHUS?

Nature reviews. Nephrology, 2009-10, Vol.5 (10), p.556-557

Cheong, Hae Il

2009

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Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation

Pediatric nephrology (Berlin, West), 1999-08, Vol.13 (6), p.477-480

1999

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Differential Diagnosis of Hereditary Nephrogenic Diabetes Insipidus with Desmopressin Infusion Test

Indian journal of pediatrics, 2010-11, Vol.77 (11), p.1329-1331

2010

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Role of Anti-Endothelial Cell Antibody in the Development of Coronary Arterial Lesions in Kawasaki Disease

Korean circulation journal, 2006, Vol.36 (11), p.723

2006

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Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease

A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus

Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension

Features of Autosomal Recessive Alport Syndrome: A Systematic Review

Hepatorenal fibrocystic diseases in children

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Acute Kidney Injury in Pediatric Cancer Patients

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε

Dent-2 Disease: A Mild Variant of Lowe Syndrome

Early recurrent nephrotic syndrome after renal transplantation in children with focal segmental glomerulosclerosis

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney

Clinical Features of Anti-Factor H Autoantibody-Associated Hemolytic Uremic Syndrome

Higher Incidence of BK Virus Nephropathy in Pediatric Kidney Allograft Recipients with Alport Syndrome

A familial case of Blau syndrome caused by a novel NOD2 genetic mutation

Translational read-through of a nonsense mutation causing Bartter syndrome

Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome

Clinical features of anti-FH auto antibodies-associated HUS: A typical onset but an atypical outcome

Can liver–kidney transplantation cure aHUS?

Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation

Differential Diagnosis of Hereditary Nephrogenic Diabetes Insipidus with Desmopressin Infusion Test

Role of Anti-Endothelial Cell Antibody in the Development of Coronary Arterial Lesions in Kawasaki Disease

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