Results 41 to 50 of about 6,563 (194)
Homocystinuria and early onset schizophrenia: a case report
Psychiatry and Clinical Psychopharmacology, 2021 Although schizophrenia is known as a late adolescence or early adulthood disorder psychotic symptoms can be seen in children. Schizophrenia which begins before 17-18 years of age is named as “early onset schizophrenia” and before age of 13 is named as ...
Cumhur Taş, Ayşen Esen Danacı
doaj
Anesthetic management of a child with homocystinuria
Journal of the Scientific Society, 2018 Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites in blood and urine. It is most often diagnosed in childhood and has variable expressions. We report a case of a 7-year-old male
Chaitanya A Kamat +3 more
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First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri +26 more
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Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
International Journal of Neonatal Screening, 2020 Background: Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977.
Kenji Yamada +4 more
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Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
HOMOCYSTINURIA AND MARFAN'S SYNDROME
, 1972 1. Skeletal and other clinical features in twenty-three patients with homocystinuria have been compared with those in sixteen patients with Marfan's syndrome. 2.
C. J. Dow +4 more
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Radiology Case Reports, 2023 Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally.
Diar S. Hama-Karim, MD +5 more
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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 +8 more
wiley +1 more source
Atypical BECTS and homocystinuria
, 2003 Reported is an association of atypical benign childhood epilepsy with centrotemporal spikes (BECTS) and homocystinuria in three apparently healthy children with borderline intelligence, two of whom had difficult-to-control seizures.
PALMERI, S. +4 more
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Molecular Genetics & Genomic Medicine, 2021 Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11
Narae Hwang +5 more
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