Results 51 to 60 of about 4,480 (201)

Ankyloglossia with cleft lip: A rare case report

Journal of Indian Society of Periodontology, 2015
Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment ...
Kritika Jangid, Aurelian Jovita Alexander, Nadathur Doraiswamy Jayakumar, Sheeja Varghese, Pratibha Ramani   +4 more
doaj   +1 more source

Diagnóstico clínico del síndrome Smith-Lemli-Opitz tipo I. Informe de Caso [PDF]

, 2018
With a low incidence, the relatively recent finding that the Smith-Lemli-Opitz syndrome is caused by a disorder of cholesterol metabolism, increases its interest as an expression of a new path for better knowledge of monogenic syndromes with multiple ...
León Mollineda, Clara, Taboada Lugo, Noel, Valle Sánchez, Caridad María   +2 more
core   +2 more sources

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Malformation syndromes caused by disorders of cholesterol synthesis

Journal of Lipid Research, 2011
Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions.
Forbes D. Porter, Gail E. Herman
doaj   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Airway Management of Patient with Smith-Lemli-Opitz Syndrome

İstanbul Medical Journal, 2015
Smith–Lemli–Opitz syndrome (SLOS) is a rare autosomal recessive syndrome presenting with multiple congenital anomalies and mental retardation associated with low plasma cholesterol levels.
Ahmet Küçük, Harun Aydoğan, Mahmut Alp Karahan, Hasan Hüsnü Yüce, Nuray Altay, İsmail İynen   +5 more
doaj   +1 more source

Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Cumhuriyet Dental Journal, 2019
Smith-Lemli-Opitz syndrome is a rare syndrome with multiple congenital anomalies after birth and characteristic with mental retardation. Hereditary cholesterol diseases are an autosomal recessive form of metabolic disturbances.
Nisa Gül Amuk, Taner Öztürk
doaj   +1 more source

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Frontiers in Neuroscience, 2021
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
Tamara Žigman, Danijela Petković Ramadža, Goran Šimić, Ivo Barić   +3 more
doaj   +1 more source

Cholesterol Deficiency Directs Autophagy‐Dependent Secretion of Extracellular Vesicles

Journal of Extracellular Vesicles, Volume 15, Issue 1, January 2026.
Inhibition of cholesterol biosynthesis within models of rare disease and cancer causes increased release of small extracellular vesicles (sEVs) with distinct biological properties. Mechanistically, cholesterol depletion leads to impaired autophagic flux, redirection of autophagosomes to late endosomes, and subsequently increased sEV secretion ...
Jazmine D. W. Yaeger, Sonali Sengupta, Austin L. Walz, Mayu Morita, Terry K. Morgan, Paola D. Vermeer, Kevin R. Francis   +6 more
wiley   +1 more source

Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development [PDF]

, 2016
Lipoprotein-related receptor protein 2 (LRP2) is important for development of the embryonic neural crest and brain in both mice and humans. Although a role in cardiovascular development can be expected, the hearts of Lrp2 knockout (KO) mice have not yet ...
Baardman, T. (Taco), Berger, R.M.F. (Rolf), DeRuiter, M.C. (Marco), Gittenberger-de Groot, A.C. (Adriana), Hierck, B.P. (Beerend), Hofstra, R.M.W. (Robert), Jongbloed, M.R.M. (Monique), Jurdzinski, A. (Angelika), Kerstjens-Frederikse, W.S. (Wilhelmina), Plösch, T. (Torsten), Wisse, L.J. (Lambertus), Zwier, M.V. (Mathijs V.)   +11 more
core   +1 more source