Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Autor: Christina G. Tise MD, PhD, Melinda J. Palma MD, Kristina P. Cusmano-Ozog MD, Dena R. Matalon MD

Publikováno v: Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023)

Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including global developmental delay (GDD), intellectual disability (ID), seizures, hypotonia, and beh

Externí odkaz: https://doaj.org/article/92727acaaf734836b314de59c2c78924

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

Autor: Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

Abstract Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and

Externí odkaz: https://doaj.org/article/4047ccdb58bb47e39d51151b229030e1

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Autor: Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Matthew L. Tedder, Raymond J. Louie, Robin S. Fletcher, Hannah W. Moore, Anna Childers, Ellyn R. Farrelly, Neena L. Champaigne, Michael J. Lyons, David B. Everman, R. Curtis Rogers, Steven A. Skinner, Alicia Renck, Dena R. Matalon, Shelley K. Dills, Berrin Monteleone, Serwet Demirdas, Alexander J.M. Dingemans, Laura Donker Kaat, Sharon M. Kolk, Rolph Pfundt, Patrick Rump, Bekim Sadikovic, Tjitske Kleefstra, Kameryn M. Butler

Publikováno v: Genetics in Medicine, 25, 1, pp. 63-75
Genetics in Medicine, 25(1), 63-75. Lippincott Williams & Wilkins
Genetics in Medicine, 25, 63-75
Genetics in Medicine, 25(1), 63-75. Nature Publishing Group

Purpose: Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A gene. WITKOS has variable expressivity that commonly overlaps with other neurodevelop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81eebd5981e9df333897e90646b216f2
https://repository.ubn.ru.nl/handle/2066/290129

Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity

Autor: Justin R. Bendigo, Megan Lin, Margret L. Casal, Mark E. Haskins, Patricia O'Donnell, Lachlan J. Smith, Yian Khai Lau, Sun H. Peck, Toren Arginteanu, Jennifer L. Kang, Dena R. Matalon

Publikováno v: Mol Genet Metab

Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient β-glucuronidase activity, leading to accumulation of incompletely degraded heparan, dermatan and chondroitin sulfate glycosaminoglycans. Patients with MPS VII

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5221f7c63c4bc4ca7b254508f81e9b
https://doi.org/10.1016/j.ymgme.2021.06.005

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

Autor: Meryl S. Cohen, David A. Stevenson, Sarah E Sheppard, Dena R. Matalon, Beth Keena, Angela E. Lin, Elizabeth J. Bhoj, Elaine H. Zackai, Avni Santani

Publikováno v: Am J Med Genet A

The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most comm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::560746212f9827f85c3575db83dc9f6a
https://doi.org/10.1002/ajmg.a.62146