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1 . Academic Journal
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
저자
by
Cary O. Harding
;
Nicola Longo
;
Hope Northrup
;
Stephanie Sacharow
;
Rani Singh
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101084- (2024)
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7 . Academic Journal
P049: Exploring the landscape of phenylketonuria education and learning needs of genetics trainees
저자
by
Kyle Lamprecht
;
Kristin Lindstrom
;
Bridget Wardley
;
Sarah Rose
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100926- (2024)
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6 . Academic Journal
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data
저자
by
Melissa Lah
;
Keziah Cook
;
Dumingu Aparna Gomes
;
Stephanie Liu
;
Nadia Tabatabaeepour
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100918- (2022)
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7 . Academic Journal
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy
저자
by
Aneta Kaczmarczyk
;
Mark Baker
;
Julianna Diddle
;
Tatiana Yuzyuk
;
David Valle
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100857- (2022)
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7 . Academic Journal
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
저자
by
Darius Adams
;
Hans C. Andersson
;
Heather Bausell
;
Kea Crivelly
;
Caroline Eggerding
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100790- (2021)
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7 . Academic Journal
Bone tissue and osteoblasts from X-linked type XVIII OI with defects in regulated intramembrane proteolysis have distinct features
저자
by
Allahdad Zarei
;
Nadja Fratzl-Zelman
;
An Dang Do
;
Megan Glassford
;
Mark Hannibal
, et al.
소스
Bone Reports, Vol 14, Iss , Pp 101007- (2021)
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7 . Academic Journal
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
저자
by
Ana Maria Martins
;
Kristin Lindstrom
;
Sandra Obikawa Kyosen
;
Maria Veronica Munoz-Rojas
;
Nathan Thibault
, et al.
소스
BMC Endocrine Disorders, Vol 18, Iss 1, Pp 1-7 (2018)
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7 . Academic Journal
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
저자
by
Simonetta Rosato
;
Sheila Unger
;
Belinda Campos-Xavier
;
Stefano Giuseppe Caraffi
;
Laura Beltrami
, et al.
소스
Genes, Vol 13, Iss 2, p 261 (2022)
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7 . Academic Journal
Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome
저자
by
Daniel C. Julien
;
Kara Woolgar
;
Laura Pollard
;
Holly Miller
;
Ankit Desai
, et al.
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Frontiers in Immunology, Vol 11 (2020)
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7 .
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
저자
by
Mari Rossi
;
Melissa K. Gabriel
;
Rolph Pfundt
;
Ange Line Bruel
;
Sonal Mahida
, et al.
소스
Human Mutation, 42(4), 445-459. Wiley-Liss Inc.
Human Mutation, 42, 445-459
Human Mutation, 42, 4, pp. 445-459
Human Mutation
Human mutation, 42(4), 445-459. Wiley-Liss Inc.
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