Results 81 to 90 of about 6,138 (207)

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

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

Urinary proteome pattern in children with renal Fanconi syndrome [PDF]

, 2017
Background. The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria.
Drube, Jens, Ehrich, Jochen H. H., Kemper, Markus J., Lichtinghagen, Ralf, Mischak, Harald, Neuhaus, Thomas, Pape, Lars, Schiffer, Eric   +7 more
core  

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

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

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

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act [PDF]

, 2015
Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of
Hoffmann, Georg Friedrich, Mechler, Konstantin, Mountford, William K., Ries, Markus   +3 more
core   +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

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation

Eurasian Journal of Medicine, 2019
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Hakan Doneray, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak   +4 more
doaj   +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