Results 51 to 60 of about 4,878 (206)

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source

Therapies for Mitochondrial Disease: Past, Present, and Future

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball, Nicole J. van Bergen, Alison G. Compton, David R. Thorburn, Shamima Rahman, John Christodoulou   +5 more
wiley   +1 more source

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

Synthetic Control of Water‐Stable Hybrid Perovskitoid Semiconductors

Advanced Materials, Volume 37, Issue 25, June 26, 2025.
Hybrid metal‐halide perovskites are promising semiconductors for optoelectronics, yet their water stability is problematic. A new synthesis method is developed using lead iodide and cysteamine under various pH conditions, forming stable perovskitoid structures.
Jiyoon Kim, Soumyadeep Ghosh, Nicholas W. G. Smith, Sunhao Liu, Yixuan Dou, Carla Slebodnick, Giti A. Khodaparast, Jin Qian, Lina Quan   +8 more
wiley   +1 more source

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis

Human Vaccines & Immunotherapeutics, 2020
We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours ...
Gurkan Bozan, Omer Kilic, Nuran Çetin, Gonca Kılıç Yıldırım, Hasan Bora Ulukapi, Merve Iseri Nepesov, Aslı Kavaz Tufan, Ener Cagri Dinleyici   +7 more
doaj   +1 more source

Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges.
Elena Sophia Doll, Julia Mahal, Karla Alex, Seraina Petra Lerch, Stefan Kölker, Christian P. Schaaf, Eva C. Winkler, Beate Ditzen   +7 more
wiley   +1 more source

Evaluating Quality of Care Indicators for Metastasis Development in Cutaneous Squamous Cell Carcinoma Among Mexican Renal Transplant Recipients

JEADV Clinical Practice, Volume 4, Issue 2, Page 499-502, June 2025.
ABSTRACT Background Cutaneous squamous cell carcinoma (cSCC) poses a high metastatic risk in immunosuppressed individuals, especially organ transplant recipients (OTRs). Despite international guidelines recognizing these risks, no universal standard exists for assessing quality of care (QoC) in cSCC.
Andrea Malagon‐Liceaga, Jesus Alejandro Romero‐Aguila, Bonfilio Roberto Lazcano‐Prieto, Fanny Carolina Lopez‐Jimenez, Rebeca Palafox‐Romo, Samantha Paola Bermudez Rodriguez, Verónica Monserrat Díaz Sanchez, Judith Dominguez‐Cherit, Silvia Mendez‐Flores, Ana Lilia Ruelas‐Villavicencio   +9 more
wiley   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source

CTNS mutations in publicly-available human cystinosis cell lines

Molecular Genetics and Metabolism Reports, 2015
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich, Renee Kinkade, Gary Royal, Todd Zankel   +3 more
doaj   +1 more source