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1.2. Cerebrospinal fluid vasopressin and symptom severity in children with autism

O Oztan , JP Garner , S Partap , EH Sherr , AY Hardan , C Farmer , A Thurm , SE Swedo , KJ Parker

To read the full abstract: Ann Neurol 2018;84:611615This paper examined the concentrations of arginine vasopressin (AVP) and oxytocin (OXY) in the cerebrospinal fluid (CSF) of autistic children (n=36) compared to controls children without psychiatric disease who needed lumbar puncture for some medical reason (n=36). The authors hypothesized that if these neuropeptides are involved ...

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ey0018.5-3 | Advances in clinical practice | ESPEYB18

5.3. Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic Rickets

Cebeci Ayşe Nurcan , Zou Minjing , BinEssa Huda A , Alzahrani Ali S , l-Rijjal Roua A , Al-Enezi Anwar F , Al-Mohanna Futwan A , Cavalier Etienne , Meyer Brian F , Shi Yufei

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. Abstract: https://pubmed.ncbi.nlm.nih.gov/31821448/In brief: In large kindred including five hypophosphatemic rickets (HR) patients with a pattern of autosomal dominant inheritance, a novel c.97996 T>A variant in the SGK3 gene segregated perfectly with the phenotype, i.e. present in all 5 patients and in none of ...

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ey0019.5-8 | Advances in clinical practice | ESPEYB19

5.8. Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

JE Hoover-Fong , KJ Schulze , AY Alade , MB Bober , E Gough , SS Hashmi , JT Hecht , JM Legare , ME Little , P Modaff , RM Pauli , DF Rodriguez-Buritica , ME Serna , C Smid , C Liu , J McGready

Orphanet J Rare Dis. 2021 Dec 23;16(1):522.Abstract: https://pubmed-ncbi-nlm-nih-gov/34949201/In Brief: Based on over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia in the USA, updated length/height-for-age, weight-for-age, head circumference-for-age (HC) and weight-for-height curves were generated for children up to 18 years of age (HC u...

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ESPE Yearbook of Paediatric Endocrinology

1.2. Cerebrospinal fluid vasopressin and symptom severity in children with autism

5.3. Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic Rickets

5.8. Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

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