Results 1 to 10 of about 143,066 (307)

Hyaline fibromatosis syndrome: A rare inherited disorder

Indian Journal of Dermatology, 2016
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs.
Meeta Dipak Mantri, Mahajan M Pradeep, Patil O Kalpesh, Raj J Pranavsinh   +3 more
doaj   +2 more sources

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report [PDF]

Frontiers in Neurology
IntroductionCOG5-related congenital disorder of glycosylation (COG5-CDG) is a rare autosomal recessive metabolic disorder with variable neurologic and ophthalmologic involvement.
Katherine Granger, Catherine Do, Catherine Quindipan, Ryan Schmidt, Ryan Schmidt, Mark S. Borchert, Mark S. Borchert, Aaron Nagiel, Aaron Nagiel, Melinda Y. Chang, Melinda Y. Chang   +10 more
doaj   +2 more sources

Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family

Frontiers in Cardiovascular Medicine, 2023
Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder.
Chon-Hou Chan, Man-Fong Chu, U-Po Lam, Toi-Meng Mok, Weng-Chio Tam, Brian Tomlinson, Ricardo Coelho, Màrio Évora   +7 more
doaj   +1 more source

Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process

International Journal of Neonatal Screening, 2023
Whether or not conditions should be included in publicly funded newborn screening (NBS) programs should be discussed according to objective and transparent criteria. Certain criteria have been developed for the introduction of NBS programs in the context
Keiko Konomura, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, Go Tajima   +4 more
doaj   +1 more source

Quantification of the early pupillary dilation kinetic to assess rod and cone activity

Scientific Reports, 2021
Rods, cones and melanopsin contribute in various proportions, depending on the stimulus light, to the pupil light response. This study used a first derivative analysis to focus on the quantification of the dynamics of pupillary dilation that immediately ...
Corinne Kostic, Sylvain V. Crippa, Lorette Leon, Christian Hamel, Isabelle Meunier, Aki Kawasaki   +5 more
doaj   +1 more source

Sibling Test - A Distinct Diagnostic Approach for Fanconi Anemia in a Patient with Negative Chromosomal Breakage Analysis

Liaquat National Journal of Primary Care, 2021
Fanconi anemia (FA) is a rare form of an inherited disorder that mainly results in aplastic anemia. In our case, a three-year-old female child presented with recurrent episodes of fever and persistent pancytopenia refractory to any treatment.
Syeda Iqra Qadri, Hafsa Rashid, Laila Tul Qadar, Subhan Savul, Saad Khalid, Tahira Naz   +5 more
doaj   +1 more source

Mitochondria and mitochondrial disorders: an overview update

Endocrine Regulations, 2022
Mitochondria, the cell powerhouse, are membrane-bound organelles present in the cytoplasm of almost all the eukaryotic cells. Their main function is to generate energy in the form of adenosine triphosphate (ATP).
Rambani Vibhuti, Hromnikova Dominika, Gasperikova Daniela, Skopkova Martina   +3 more
doaj   +1 more source

Inherited platelet disorders [PDF]

Journal of Veterinary Emergency and Critical Care, 2012
AbstractObjectiveTo present the latest information on inherited platelet disorders in domestic animals.Data SourcesResearch articles and reviews spanning 40 years available on PubMed.Human Data SynthesisInformation regarding inherited platelet disorders in people is plentiful and often descriptions of human conditions have led to the identification of ...
A T, Nurden, K, Freson, U, Seligsohn
openaire   +4 more sources

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases

Children, 2022
Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary
Tamami Kadota, Marin Ochiai, Rena Okawa, Kazuhiko Nakano   +3 more
doaj   +1 more source

A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

International Journal of Neonatal Screening, 2022
Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment.
Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan   +9 more
doaj   +1 more source