Results 31 to 40 of about 6,563 (194)

Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia [PDF]

Disease and Diagnosis, 2022
Background: Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic ...
Tahereh Dianat, Dor Mohammad Kordi Tamandani, Maryam Najafi, Ali Khajeh   +3 more
doaj   +1 more source

A case series of cerebral venous thrombosis as the first manifestation of homocystinuria. [PDF]

, 2021
Background Cerebral venous thrombosis (CVT) is an important cause of stroke particularly in younger patients and potentially fatal if diagnosis is delayed.
Geberhiwot, Tarekegn, Dawson, Charlotte, Preece, Mary Anne, Ochoa-Ferraro, Antonio, Gerrard, Adam, Wanninayake, Subadra   +5 more
core   +1 more source

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland

JIMD Reports, 2019
Background Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β‐synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestations include lens
John Allen, Bronwyn Power, Aida Abedin, Orla Purcell, Ina Knerr, Ahmad Monavari   +5 more
doaj   +1 more source

A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

International Journal of Neonatal Screening, 2017
Homocystinuria (HCU) due to cystathionine-β-synthase deficiency is generally regarded as a rare disease, but within the Qatari population has an incidence of 1 in 1800 live births. Most newborn screening methods for HCU using dried blood spots (DBS) rely
Rose Maase, Victor Skrinska, Noura Younes, Lubna Hassan, Rola Mitri, Dietrich Matern, Piero Rinaldo, Coleman Turgeon   +7 more
doaj   +1 more source

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

JIMD Reports, 2020
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum   +10 more
doaj   +1 more source

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management [PDF]

, 2018
Homocystinuria due to cystathionine beta synthase (CBS) deficiency presents with a wide clinical spectrum. Treatment by the enteral route aims at reducing homocysteine levels by using vitamin B6, possibly methionine-restricted diet, betaine and/or folate
Jean-Marc Nuoffer, Julie Rieger, Berger, M.M., Bonafé, Luisa, Nuoffer, J.M., Mette M. Berger, Bonafé, L., Berger, Mette M., Nuoffer, Jean-Marc, Christel Tran, Rieger, J., Rieger, Julie, Tran, C., Luisa Bonafé, Tran, Christel   +14 more
core   +1 more source

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan

International Journal of Neonatal Screening, 2021
To minimize false-positive cases in newborn screening by tandem mass spectrometry in Japan, practical second-tier liquid chromatography-tandem mass spectrometry analyses have been developed using a multimode ODS column with a single set of mobile phases ...
Yosuke Shigematsu, Miori Yuasa, Nobuyuki Ishige, Hideki Nakajima, Go Tajima   +4 more
doaj   +1 more source

Reconciling the Evidence on Serum Homocysteine and Ischaemic Heart Disease: A Meta-Analysis [PDF]

, 2011
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
Wald, NJ, Morris Joan K., David S. Wald, Morris, JK, Nicholas J Wald, Wald Nicholas J., Joan K. Morris, David S Wald, Wald, DS, Wald David S., Nicholas J. Wald, Joan K Morris   +11 more
core   +2 more sources

Lens subluxation in a patient with homocystinuria. Case report

Journal of Ophthalmology, 2021
Homocystinuria is an inborn error of metabolism caused by cystathionine b-synthetase deficiency, with autosomal recessive inheritance. The clinical picture is characterized by skeletal changes, mental deficit, lens subluxation, and a tendency to ...
Garduño-Vieyra Leopoldo, Flores Escobar Bruno   +1 more
doaj   +1 more source

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

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
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