Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

American journal of medical genetics. Part A·2024

HostSeq: a Canadian whole genome sequencing and clinical data resource.

BMC genomic data·2023

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Acta neuropathologica·2019

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Clinical genetics·2017

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Clinical genetics·2016

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Clinical genetics·2015

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

Brief Report: Service Referral and Enrollment Following Autism Diagnosis in Primary Care.

Research in autism·2026

Comparative effectiveness of virtual reality vs. traditional motor games on developmental functioning and motor skills in autistic children spectrum disorder: a cohort study.

Frontiers in pediatrics·2026

A study on the correlations between parent-child interaction, school adaptation type, and adolescent mental health.

Frontiers in psychology·2026

Assessment of common mental disorders in the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort at age 24 years using the Clinical Interview Schedule-Revised (CIS-R).

Wellcome open research·2026

Unseen Care, Unequal Worlds: Photovoice Narratives of Siblings Supporting Deafblind Adolescents in Indonesia.

F1000Research·2026

Reduced Motor Preparation and Altered EEG Signatures of Prediction in Autistic Adults.

The European journal of neuroscience·2026

Related Experiment Videos

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay

Related Concept Videos

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

HostSeq: a Canadian whole genome sequencing and clinical data resource.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

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Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

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Comparative effectiveness of virtual reality vs. traditional motor games on developmental functioning and motor skills in autistic children spectrum disorder: a cohort study.

A study on the correlations between parent-child interaction, school adaptation type, and adolescent mental health.

Assessment of common mental disorders in the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort at age 24 years using the Clinical Interview Schedule-Revised (CIS-R).

Unseen Care, Unequal Worlds: Photovoice Narratives of Siblings Supporting Deafblind Adolescents in Indonesia.

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Related Experiment Videos

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay

Related Concept Videos

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