Results 71 to 80 of about 21,243 (259)

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

Movement Disorders, EarlyView.
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi, Ylenia Vaia, Clara E. Antonello, Marco Spada, Francesco Porta, Cristina Marinaccio, Claudia Carducci, Thomas Opladen, Jacopo Sartorelli, Federica Maria Zibordi, Daniele Ghezzi, Francesco Nicita, Davide Tonduti   +12 more
wiley   +1 more source

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

Orphanet Journal of Rare Diseases
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process.
Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani   +2 more
doaj   +1 more source

Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

Frontiers in Neurology, 2019
Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease.
Shuna Chen, Mingqin Zhu, Yulei Hao, Jiachun Feng, Ying Zhang   +4 more
doaj   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Quantitative Comparison of Multi‐Echo Spin Echo and Multi‐Echo Gradient Echo Myelin Water Imaging in a Panel of Mbp Enhancer‐Edited Mouse Lines

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To evaluate the correspondence between myelin water fraction (MWF) estimates derived from multi‐echo spin echo (MESE) and multi‐echo gradient echo (MGRE) imaging in fixed mouse brain tissue, using a panel of myelin basic protein (Mbp) enhancer‐edited mouse lines exhibiting graded hypomyelination.
Vladimir Grouza, Yawen Shi, Sean Goldfarb, Klaudia M. Bednarz, Isabella Gomez, Marius Tuznik, Zhe Wu, Hooman Bagheri, Katherine A. Siminovitch, Alan C. Peterson, Thomas Stroh, David A. Rudko   +11 more
wiley   +1 more source

A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

Pakistan Armed Forces Medical Journal, 2021
Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
doaj  

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

Frontiers in Neurology, 2019
Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0–2 years), juvenile (2–13 years), and adult (>13 years).
Andrea Ciammola, Davide Sangalli, Jenny Sassone, Jenny Sassone, Barbara Poletti, Laura Carelli, Paolo Banfi, Gabriele Pappacoda, Isabella Ceccherini, Alice Grossi, Luca Maderna, Monica Pingue, Monica Pingue, Floriano Girotti, Vincenzo Silani, Vincenzo Silani   +15 more
doaj   +1 more source

Creating New β-Globin-Expressing Lentiviral Vectors by High-Resolution Mapping of Locus Control Region Enhancer Sequences. [PDF]

, 2020
Hematopoietic stem cell gene therapy is a promising approach for treating disorders of the hematopoietic system. Identifying combinations of cis-regulatory elements that do not impede packaging or transduction efficiency when included in lentiviral ...
Aleshe, Bamidele, Ayoub, Paul George, Brown, Devin, Hollis, Roger P, Kohn, Donald B, Kurita, Ryo, Lathrop, Lindsay, Ma, Feiyang, Morgan, Richard A, Nakamura, Yukio, Pellegrini, Matteo, Senadheera, Shantha, Tam, Curtis, Unti, Mildred J, Wong, Ryan L   +14 more
core   +1 more source

Clinical, genetic, and molecular characteristics in a central‐southern Chinese cohort of genetic leukodystrophies [PDF]

, 2023
Yingjie Li, Jiaming Xu, Xu Yan, Chuanzhou Li, Yan Wu, Zhijun Liu   +5 more
openalex   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source