[Intermittent ataxia with hyperpyruvicemia and hyperalaninuria (pyruvate decarboxylase deficiency)]

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources.

Bone marrow transplantation·2003

[Persistent hyperplastic primary vitreous syndrome in a girl with Aicardi syndrome].

Journal francais d'ophtalmologie·2000

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

Human genetics·1998

Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.

The Journal of pediatrics·1998

[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·1997

A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

Journal of inherited metabolic disease·1995

[Psychological aspects of bone marrow donation in donor brothers and sisters in bone marrow transplantation].

Pediatrie·1993

[Lethargy in the course of treatment with ranitidine in a newborn infant].

Pediatrie·1993

[Delayed detection of hip dislocation: is the physician to blame?].

Pediatrie·1993

[Renal tubular acidosis in children].

Pediatrie·1993

[CD23: structures, functions and practical perspectives in allergy reactions].

Pediatrie·1993

[Accessory thymus in cervical ectopy: apropos of a case].

Pediatrie·1993

An economic analysis of interseeding of pasture and feeding legume forages to dairy cows in an organic system.

JDS communications·2026

Climate-Resilient Bread Wheat for Arid Environments: Adaptation and Yield Performance of Diverse Genotypes Across Contrasting Growing Conditions.

Plants (Basel, Switzerland)·2026

Seasonal precipitation and soil mineral nutrients contribute to variation in ginsenoside accumulation in American ginseng across China's major production regions.

Frontiers in plant science·2026

Genomic Evolution and Nitrogen Response Analysis of Glutamate Synthase Gene Family in Rice Source-Sink Tissues During Grain Filling.

Genes·2026

Data on the uptake of Integrated Pest Management (IPM) practices in European agriculture.

Data in brief·2026

Long-term crop mapping in the three provinces of Northeast China based on multi-source sample fusion.

Scientific data·2026

Related Experiment Videos

[Intermittent ataxia with hyperpyruvicemia and hyperalaninuria (pyruvate decarboxylase deficiency)]

Related Concept Videos

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources.

[Persistent hyperplastic primary vitreous syndrome in a girl with Aicardi syndrome].

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.

[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases].

A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

[Psychological aspects of bone marrow donation in donor brothers and sisters in bone marrow transplantation].

[Lethargy in the course of treatment with ranitidine in a newborn infant].

[Delayed detection of hip dislocation: is the physician to blame?].

[Renal tubular acidosis in children].

[CD23: structures, functions and practical perspectives in allergy reactions].

[Accessory thymus in cervical ectopy: apropos of a case].

An economic analysis of interseeding of pasture and feeding legume forages to dairy cows in an organic system.

Climate-Resilient Bread Wheat for Arid Environments: Adaptation and Yield Performance of Diverse Genotypes Across Contrasting Growing Conditions.

Seasonal precipitation and soil mineral nutrients contribute to variation in ginsenoside accumulation in American ginseng across China's major production regions.

Genomic Evolution and Nitrogen Response Analysis of Glutamate Synthase Gene Family in Rice Source-Sink Tissues During Grain Filling.

Data on the uptake of Integrated Pest Management (IPM) practices in European agriculture.

Long-term crop mapping in the three provinces of Northeast China based on multi-source sample fusion.

Related Experiment Videos

[Intermittent ataxia with hyperpyruvicemia and hyperalaninuria (pyruvate decarboxylase deficiency)]

Related Concept Videos

Related Articles