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Agricola

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A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants.

• Authors : Geiculescu, Irina; Dranove, Jason; Cosper, Graham

• Source: American Journal of Medical Genetics. Part A; Aug2022, Vol. 188 Issue 8, p2438-2442, 5p

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Primary adrenal insufficiency: New genetic causes and their long‐term consequences.

• Authors : Buonocore, Federica; Achermann, John C.

Subjects: ADDISON'S disease; ADRENAL insufficiency; GAIN-of-function mutations

• Source: Clinical Endocrinology; Jan2020, Vol. 92 Issue 1, p11-20, 10p, 1 Color Photograph, 2 Diagrams, 2 Charts

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Paediatric Neurology

• Authors : Rob Forsyth; Daniel E. Lumsden; Filipa Rodrigues

Subjects: MEDICAL / Neurology; MEDICAL / Pediatrics

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Clinical Judgment USMLE Step 3 Review

• Authors : George Lee

Subjects: MEDICAL / Clinical Medicine

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Findings from A.S. Anisimova and Co-Researchers Advance Knowledge in Adrenal Insufficiency (Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11C > A Mutation)

• Source: Obesity, Fitness & Wellness Week. April 22, 2017, 924

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Study Results from Dokuz Eylul University Provide New Insights into Adrenal Insufficiency [A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency]

• Source: Health & Medicine Week. April 14, 2017, 3069

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