Maternal PKU syndrome in an exceptional family with unexpected PKU

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.

Journal of inherited metabolic disease·2001

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.

Journal of inherited metabolic disease·2001

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.

Pediatrics·2000

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Human genetics·2000

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Annals of neurology·2000

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.

European journal of human genetics : EJHG·2000

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Journal of inherited metabolic disease·2026

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

Factors Affecting Difficulties Faced by Women During their First Year of Clean Intermittent Self-Catheterization.

International urogynecology journal·2026

Cradling Communities: Nursing Students Lead Tiny Cubs Baby Showers for Education.

Nursing education perspectives·2026

Depressive symptoms mediate the association between loneliness and cognitive performance in women living with HIV: findings from the Women's Interagency HIV Study.

AIDS care·2026

Discussing menopausal symptoms at work and associations with taboo, symptom severity, and need for recovery after work.

Menopause (New York, N.Y.)·2026

The Effectiveness of a Prenatal Educational Programme on Fear of Childbirth Among Primigravida Women: A quasi-experimental pretest-post-test study.

Sultan Qaboos University medical journal·2026

Multiorgan Toxicity Following Rifapentine and Isoniazid Therapy for Latent Tuberculosis Infection: A Case Report.

Cureus·2026

Related Experiment Videos

Maternal PKU syndrome in an exceptional family with unexpected PKU

Related Concept Videos

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

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

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

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

Genome Editing for Glycogen Storage Diseases.

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.

Factors Affecting Difficulties Faced by Women During their First Year of Clean Intermittent Self-Catheterization.

Cradling Communities: Nursing Students Lead Tiny Cubs Baby Showers for Education.

Depressive symptoms mediate the association between loneliness and cognitive performance in women living with HIV: findings from the Women's Interagency HIV Study.

Discussing menopausal symptoms at work and associations with taboo, symptom severity, and need for recovery after work.

The Effectiveness of a Prenatal Educational Programme on Fear of Childbirth Among Primigravida Women: A quasi-experimental pretest-post-test study.

Multiorgan Toxicity Following Rifapentine and Isoniazid Therapy for Latent Tuberculosis Infection: A Case Report.

Related Experiment Videos

Maternal PKU syndrome in an exceptional family with unexpected PKU

Related Concept Videos

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