Search Results - "Inborn errors of metabolism"

A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the SCNN1B Gene.

Authors: Singin, Berna Donbaloğlu, Zeynep Çetiner, Ebru Barsal et al.

Source: Journal of Clinical Research in Pediatric Endocrinology. 2026 Suppl, Vol. 18, p54-58. 5p.

Hepatosplenomegaly in children: A gateway to inherited metabolic disorders.

Authors: Burgaç, Ezgi Çelik, Merve Yoldaş Köseci, Burcu

Source: Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi. May2026, Vol. 20 Issue 3, p197-201. 5p.

Fully Automated Serum LC-MS/MS Platform and Pediatric Reference Intervals for Organic Acids, Amino Acids, and Acylcarnitines in Children (Ages 0–6 Years): Toward Quantitative Diagnosis of Inborn Errors of Metabolism.

Authors: Ueyanagi, Yasushi Setoyama, Daiki Nakanishi, Tsuyoshi et al.

Source: Diagnostics (2075-4418). Mar2026, Vol. 16 Issue 6, p911. 20p.

The kidney in genetic metabolic disorders.

Authors: Schultheiss, Ulla T. Schumann, Anke

Source: Medizinische Genetik. Feb2026, Vol. 38 Issue 1, p39-50. 12p.

A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I.

Authors: Zamani, Nasrin Mohammadi Sarband Mirab Samiee et al.

Source: Egyptian Journal of Medical Human Genetics. 1/6/2026, Vol. 27 Issue 1, p1-15. 15p.

Short-chain Acyl-CoA Dehydrogenase Deficiency in a Child: A Case Report.

Authors: CHAVAN, SANJAY SADHU, POOJA SURESHA et al.

Source: Journal of Clinical & Diagnostic Research. Jan2026, Vol. 20 Issue 1, p1-4. 4p.

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience.

Authors: Deudero, Aida Lasheras, Esther Ventura, Roser et al.

Source: Journal of Clinical Medicine. Jan2026, Vol. 15 Issue 1, p81. 19p.

ВРОДЖЕНА ГАЛАКТОЗЕМІЯ В ПРАКТИЦІ НЕОНАТОЛОГА (КЛІНІЧНИЙ ВИПАДОК).

Alternate Title: CONGENITAL GALACTOSEMIA IN NEONATAL PRACTICE: A CLINICAL CASE REPORT.

Authors: Редько, І. І. Лобанов, А. Ю. Токарєва, Ю. Б.

Source: Neonatology Surgery & Perinatal Medicine. 2026, Vol. 16 Issue 1(59), p255-259. 5p.

Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.

Authors: Hopurcuoglu, Duhan Zubarioglu, Tanyel Akgun, Abdurrahman et al.

Source: Annals of Indian Academy of Neurology. Jan/Feb2026, Vol. 29 Issue 1, p94-97. 4p.

Primary Coenzyme Q10 Deficiency Type 7: A Potentially Treatable Cause of Developmental Delay.

Authors: Srinivasan, Varunvenkat M. Nilay, Mayank Manisha, Rani

Source: Neurology India. May/Jun2026, Vol. 74 Issue 3, p526-528. 3p.

Pseudohypoparathyroidism with Turner's Syndrome.

Authors: Ul Islam, Mohd Shurjeel Saqib, Najam U Farooq, Mir Umar

Source: Indian Journal of Dermatology. May/Jun2026, Vol. 71 Issue 3, p247-249. 3p.

Optimizing Testing Time for Methaemoglobin Reduction Test in G6PD Screening: A Comparative Study of Monica Cheesbrough's Protocol and a Modified Approach at a Hospital in a Resource‐Restraint Country, Ghana.

Authors: Duneeh, Richard Vikpebah Appiah-Intsiful, Emmanuel Bedzina, Israel et al.

Source: Advances in Hematology. 11/20/2025, Vol. 2025, p1-8. 8p.

Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis.

Authors: Campos-Acevedo, Luis D. Arenas-Estala, Joel Ibarra-Ramírez, Marisol et al.

Source: Pediatric Reports. Dec2025, Vol. 17 Issue 6, p113. 5p.

Xanthine Stones in an Infant: A Case Report and Clinical Insights.

Authors: Patil, Siddanagouda B. Kundargi, Vinay S. Patil, Santosh et al.

Source: Journal of Urological Surgery. Dec2025, Vol. 12 Issue 4, p273-277. 5p.

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.

Authors: Handoom, Bedour Alohali, Eman Elsagher, Hifa et al.

Source: Orphanet Journal of Rare Diseases. 11/17/2025, Vol. 20 Issue 1, p1-20. 20p.

Animal models of methylmalonic acidemia: insights and challenges.

Authors: Shan, Shan Liu, Min Ma, Yue et al.

Source: Orphanet Journal of Rare Diseases. 11/14/2025, Vol. 20 Issue 1, p1-8. 8p.

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent IDUA Allele in Colombia.

Authors: Vanegas, Sara Ramírez-Montaño, Diana Padilla-Guzmán, Alejandro et al.

Source: International Journal of Molecular Sciences. Nov2025, Vol. 26 Issue 21, p10418. 12p.

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.

Authors: Lipiński, Patryk Doroba, Anna

Source: Diagnostics (2075-4418). Nov2025, Vol. 15 Issue 21, p2806. 27p.

Spectrum of inborn errors of metabolism: a tertiary hospital-based study in Egypt.

Authors: Anwar, Shimaa Anwar Mohamed Kamel, Fatma Mohamed Marzouk, Iman Mohamed et al.

Source: Egyptian Pediatric Association Gazette. 10/13/2025, Vol. 73 Issue 1, p1-8. 8p.

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.

Authors: Harings, Tanjana Bertsche, Thilo Thiele, Alena Gerlinde et al.

Source: Orphanet Journal of Rare Diseases. 10/6/2025, Vol. 20 Issue 1, p1-8. 8p.