Julian Midgley
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View article: Sphingosine phosphate lyase insufficiency syndrome as a primary immunodeficiency state
Sphingosine phosphate lyase insufficiency syndrome as a primary immunodeficiency state Open
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a genetic disease associated with renal, endocrine, neurological, skin and immune defects. SPLIS is caused by inactivating mutations in SGPL1, which encodes sphingosine phosphat…
View article: Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients
Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients Open
Background Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized inborn error of metabolism associated with steroid-resistant nephrotic syndrome as well as adrenal insufficiency and immunological, neurologic…
View article: WCN24-1719 SUPPORT AND ADVOCACY FOR PAEDIATRIC NEPHROLOGY: THE IBADAN, NIGERIA – CALGARY, CANADA SISTER RENAL CENTRE (SRC) PROGRAM
WCN24-1719 SUPPORT AND ADVOCACY FOR PAEDIATRIC NEPHROLOGY: THE IBADAN, NIGERIA – CALGARY, CANADA SISTER RENAL CENTRE (SRC) PROGRAM Open
In April 2011, at the 8th Conference on Kidney Disease in Disadvantaged Populations: Disparities in Renal Disease – Moving Towards Solutions, Dr Samuel from Calgary and Dr Ademola from Ibadan met and initiated a collaboration. Soon afterwa…
View article: Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome: A Retrospective Cross-Sectional Study of 76 Patients
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome: A Retrospective Cross-Sectional Study of 76 Patients Open
Background Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized metabolic disorder associated with kidney, endocrine, immunological, neurological, and skin manifestations. SPLIS is caused by inactivating mu…
View article: Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys
Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys Open
View article: Author response for "The Accuracy of Incident Vertebral Fracture Detection in Children Using Targeted Case‐Finding Approaches"
Author response for "The Accuracy of Incident Vertebral Fracture Detection in Children Using Targeted Case‐Finding Approaches" Open
View article: Correction to: 2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference
Correction to: 2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference Open
View article: A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?
A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations? Open
View article: ALG9-CDG: New clinical case and review of the literature
ALG9-CDG: New clinical case and review of the literature Open
View article: Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency Open
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age…
View article: Setting New Directions for Research in Childhood Nephrotic Syndrome: Results From a National Workshop
Setting New Directions for Research in Childhood Nephrotic Syndrome: Results From a National Workshop Open
Background: We report on the proceedings of a national workshop held in Canada with the aims to identify priorities for research in childhood nephrotic syndrome and to develop a national strategy to address these priorities. Methods: A div…
View article: Glomerular Filtration Rate Trends During Follow-up in Children With Steroid-Sensitive Nephrotic Syndrome
Glomerular Filtration Rate Trends During Follow-up in Children With Steroid-Sensitive Nephrotic Syndrome Open
Background: Overall prognosis of children with steroid-sensitive nephrotic syndrome (SSNS) is regarded as generally favorable. However, only a few recent studies have evaluated changes in kidney function and blood pressure over time in chi…