Results 11 to 20 of about 8,730 (170)

A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria [PDF]

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT We report a 39‐year‐old woman with lifelong visual impairment who presented in June 2024 with progressive visual deterioration in her right eye. Ophthalmologic evaluation revealed severe high myopia, vitreoretinal degeneration, phthisis bulbi of the left eye, and downward lens dislocation of the right eye.
Elnaz Asadollahzadeh, Ali Rezaei, Vahid Shahmaei, Mohammad‐Sadegh Johari, Mohammad Ali Sahraian   +4 more
wiley   +2 more sources

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity [PDF]

Clinical Case Reports, Volume 14, Issue 4, April 2026.
Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Maria Chiara Pellegrin, Gianluca Tamaro, Alice Fachin, Egidio Barbi, Gianluca Tornese   +4 more
wiley   +2 more sources

Isolated aortic root dilation in homocystinuria [PDF]

, 2017
BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Davison, JE, Elliott, PM, Guha, N, Kemp, H, Lachmann, R, Lorenzini, M, Murphy, E, Pandya, B, Pitcher, A   +8 more
core   +2 more sources

Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids [PDF]

, 1974
The effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids was studied and the following results were obtained.
Ikegami, T., Kodama, H., Oura, T., Yao, K.   +3 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Homocystinuria, a Possible Solution of the Akhenaten’s Mystery [PDF]

, 2010
Pharaoh Amenophis IV (Amenhotep IV), also known as Akhenaten, is the most mysterious person in Egyptian history and he still remains the object of academic argues. This revolutionary king introduced a new concept in Egyptian religion and arts.
Boris Brkljačić, Boris Olujić, Mislav Čavka, Tomislav Kelava, Vlatka Čavka, Željko Bušić   +5 more
core   +1 more source

Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years [PDF]

, 2010
Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient ...
Blom, Burtis, Chamberlin, Chamberlin, Chamberlin, Chien, Choi, Choi, Dong Hwan Lee, Gaull, Gaull, Gaull, Harvey Mudd, Kim, Labrune, Lee, Lee, Lee, Mudd, Mudd, Mudd, Nagao, Ohura, Se Jung Oh, Sturman, Ubagai, Yong Hee Hong, Yong Wha Lee   +27 more
core   +1 more source

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya   +7 more
wiley   +1 more source