about
Rfx6 directs islet formation and insulin production in mice and humansCRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaUnique medical issues in adult patients with mucopolysaccharidosesPhenylalanine hydroxylase deficiency.Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groupsThe health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.Pregnancy in patients with mucopolysaccharidosis: a case seriesImpact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.Phenylalanine hydroxylase deficiency: diagnosis and management guideline.Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.Phenylketonuria Scientific Review Conference: state of the science and future research needs.Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses.The prevalence of hypoglycemia in children with vomiting or decreased oral intake and irritability.Redefining normal bone and mineral clinical biochemistry reference intervals for healthy infants in Canada.Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.Familial cold urticariaExpanded carrier screening in the Ashkenazi Jewish populationPregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD)Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patientsUpdate on transcobalamin deficiency: clinical presentation, treatment and outcomeHematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review
P50
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P50
description
hulumtues
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researcher
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հետազոտող
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name
John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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جون جي ميتشيل
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type
label
John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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جون جي ميتشيل
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John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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John J. Mitchell
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جون جي ميتشيل
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P1053
E-5727-2016
P106
P1153
55478373800
P21
P31
P3829
P3835
john-mitchell14
P496
0000-0002-6055-6858